부산대학교 도서관

Pereira-Hernández M; Group of Genetics and Developmental Biology of Renal Disease, Laboratory of Nephrology, Health Research Institute of Santiago de Compostela (IDIS), Clinical University Hospital (CHUS), Santiago de Compostela, 15706, Spain.; Genomic Medicine Group, Clinical University Hospital (CHUS), Santiago de Compostela, 15706, Spain.; RICORS2040 (Kidney Disease), ISCIII, Santiago de Compostela, 15706, Spain.; Picáns-Leis R; Neonatology Department. Metabolic Unit, RICORS-SAMID, CIBERER. University Clinical Hospital of Santiago de Compostela, Santiago de Compostela, 15706, Spain.; Vázquez-Mosquera ME; Neonatology Department. Metabolic Unit, RICORS-SAMID, CIBERER. University Clinical Hospital of Santiago de Compostela, Santiago de Compostela, 15706, Spain.; Lago-Baameiro N; Obesidomic Group, Endocrinology Area, Health Research Institute of Santiago de Compostela (IDIS), Clinical University Hospital (CHUS)/SERGAS, Santiago de Compostela, 15706, Spain.; CIBER Pathophysiology Obesity and Nutrition, Instituto de Salud Carlos III, Madrid, Spain.; SP-IRIS Platform, Health Research Institute of Santiago de Compostela (IDIS), Clinical University Hospital (CHUS)/SERGAS, Santiago de Compostela, Spain.; Fortes-González P; Group of Genetics and Developmental Biology of Renal Disease, Laboratory of Nephrology, Health Research Institute of Santiago de Compostela (IDIS), Clinical University Hospital (CHUS), Santiago de Compostela, 15706, Spain.; Genomic Medicine Group, Clinical University Hospital (CHUS), Santiago de Compostela, 15706, Spain.; RICORS2040 (Kidney Disease), ISCIII, Santiago de Compostela, 15706, Spain.; López-Valverde L; Neonatology Department. Metabolic Unit, RICORS-SAMID, CIBERER. University Clinical Hospital of Santiago de Compostela, Santiago de Compostela, 15706, Spain.; de la Iglesia AB; Group of Genetics and Developmental Biology of Renal Disease, Laboratory of Nephrology, Health Research Institute of Santiago de Compostela (IDIS), Clinical University Hospital (CHUS), Santiago de Compostela, 15706, Spain.; Genomic Medicine Group, Clinical University Hospital (CHUS), Santiago de Compostela, 15706, Spain.; RICORS2040 (Kidney Disease), ISCIII, Santiago de Compostela, 15706, Spain.; Núñez-González L; Group of Genetics and Developmental Biology of Renal Disease, Laboratory of Nephrology, Health Research Institute of Santiago de Compostela (IDIS), Clinical University Hospital (CHUS), Santiago de Compostela, 15706, Spain.; Genomic Medicine Group, Clinical University Hospital (CHUS), Santiago de Compostela, 15706, Spain.; RICORS2040 (Kidney Disease), ISCIII, Santiago de Compostela, 15706, Spain.; Bravo SB; Proteomic Platform, Health Research Institute of Santiago de Compostela (IDIS), Clinical University Hospital (CHUS), Santiago de Compostela, 15706, Spain.; Pardo M; Obesidomic Group, Endocrinology Area, Health Research Institute of Santiago de Compostela (IDIS), Clinical University Hospital (CHUS)/SERGAS, Santiago de Compostela, 15706, Spain.; CIBER Pathophysiology Obesity and Nutrition, Instituto de Salud Carlos III, Madrid, Spain.; SP-IRIS Platform, Health Research Institute of Santiago de Compostela (IDIS), Clinical University Hospital (CHUS)/SERGAS, Santiago de Compostela, Spain.; Couce ML; Neonatology Department. Metabolic Unit, RICORS-SAMID, CIBERER. University Clinical Hospital of Santiago de Compostela, Santiago de Compostela, 15706, Spain. maria.luz.couce.pico@sergas.es.; Garcia-Gonzalez MA; Group of Genetics and Developmental Biology of Renal Disease, Laboratory of Nephrology, Health Research Institute of Santiago de Compostela (IDIS), Clinical University Hospital (CHUS), Santiago de Compostela, 15706, Spain. miguel.garcia.gonzalez@sergas.es.; Genomic Medicine Group, Clinical University Hospital (CHUS), Santiago de Compostela, 15706, Spain. miguel.garcia.gonzalez@sergas.es.; RICORS2040 (Kidney Disease), ISCIII, Santiago de Compostela, 15706, Spain. miguel.garcia.gonzalez@sergas.es.

Publisher: BioMed Central Country of Publication: England NLM ID: 101170464 Publication Model: Electronic Cited Medium: Internet ISSN: 1478-811X (Electronic) Linking ISSN: 1478811X NLM ISO Abbreviation: Cell Commun Signal Subsets: MEDLINE; In Process

Couce ML; Diagnosis and Treatment of Congenital Metabolic Diseases, University Clinical Hospital of Santiago de Compostela, A Coruña, Spain. maria.luz.couce.pico@sergas.es.; Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela University, CIBERER, RICORS, MetabERN, A Coruña, Spain. maria.luz.couce.pico@sergas.es.; Bóveda MD; Diagnosis and Treatment of Congenital Metabolic Diseases, University Clinical Hospital of Santiago de Compostela, A Coruña, Spain.; Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela University, CIBERER, RICORS, MetabERN, A Coruña, Spain.; Castiñeiras DE; Diagnosis and Treatment of Congenital Metabolic Diseases, University Clinical Hospital of Santiago de Compostela, A Coruña, Spain.; Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela University, CIBERER, RICORS, MetabERN, A Coruña, Spain.; Vázquez-Mosquera ME; Diagnosis and Treatment of Congenital Metabolic Diseases, University Clinical Hospital of Santiago de Compostela, A Coruña, Spain.; Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela University, CIBERER, RICORS, MetabERN, A Coruña, Spain.; Barbosa-Gouveia S; Diagnosis and Treatment of Congenital Metabolic Diseases, University Clinical Hospital of Santiago de Compostela, A Coruña, Spain.; Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela University, CIBERER, RICORS, MetabERN, A Coruña, Spain.; De Castro MJ; Diagnosis and Treatment of Congenital Metabolic Diseases, University Clinical Hospital of Santiago de Compostela, A Coruña, Spain.; Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela University, CIBERER, RICORS, MetabERN, A Coruña, Spain.; Iglesias-Rodríguez AJ; Diagnosis and Treatment of Congenital Metabolic Diseases, University Clinical Hospital of Santiago de Compostela, A Coruña, Spain.; Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela University, CIBERER, RICORS, MetabERN, A Coruña, Spain.; Colón C; Diagnosis and Treatment of Congenital Metabolic Diseases, University Clinical Hospital of Santiago de Compostela, A Coruña, Spain.; Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela University, CIBERER, RICORS, MetabERN, A Coruña, Spain.; Cocho JA; Diagnosis and Treatment of Congenital Metabolic Diseases, University Clinical Hospital of Santiago de Compostela, A Coruña, Spain.; Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela University, CIBERER, RICORS, MetabERN, A Coruña, Spain.; Sánchez P; Diagnosis and Treatment of Congenital Metabolic Diseases, University Clinical Hospital of Santiago de Compostela, A Coruña, Spain.; Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela University, CIBERER, RICORS, MetabERN, A Coruña, Spain.

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Martín López-Pardo B; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Neonatology, Santiago de Compostela University Clinical Hospital, Choupana Street, 15704, Santiago de Compostela, Spain.; IDIS-Health Research Institute of Santiago de Compostela, Santiago de Compostela University Clinical Hospital, Choupana Street, 15704, Santiago de Compostela, Spain.; European Reference Network for Hereditary Metabolic Disorders (MetabERN), Santiago de Compostela University Clinical Hospital, Choupana Street, 15704, Santiago de Compostela, Spain.; Barbosa-Gouveia S; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Neonatology, Santiago de Compostela University Clinical Hospital, Choupana Street, 15704, Santiago de Compostela, Spain.; IDIS-Health Research Institute of Santiago de Compostela, Santiago de Compostela University Clinical Hospital, Choupana Street, 15704, Santiago de Compostela, Spain.; European Reference Network for Hereditary Metabolic Disorders (MetabERN), Santiago de Compostela University Clinical Hospital, Choupana Street, 15704, Santiago de Compostela, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Monforte de Lemos Street, 3-5, 28029, Madrid, Spain.; Vázquez-Mosquera ME; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Neonatology, Santiago de Compostela University Clinical Hospital, Choupana Street, 15704, Santiago de Compostela, Spain.; IDIS-Health Research Institute of Santiago de Compostela, Santiago de Compostela University Clinical Hospital, Choupana Street, 15704, Santiago de Compostela, Spain.; European Reference Network for Hereditary Metabolic Disorders (MetabERN), Santiago de Compostela University Clinical Hospital, Choupana Street, 15704, Santiago de Compostela, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Monforte de Lemos Street, 3-5, 28029, Madrid, Spain.; Red RICORS-SAMID, ISCIII, Madrid, Spain.; Reyes F; IDIS-Health Research Institute of Santiago de Compostela, Santiago de Compostela University Clinical Hospital, Choupana Street, 15704, Santiago de Compostela, Spain.; Centro de Investigaciones en Red en Enfermedades Cardiovasculares (CIBERCV), Monforte de Lemos, 3-5, 28029, Madrid, Spain.; Falcão Reis C; Unit of Medical Genetics, Jacinto Magalhães Medical Genetics Center, Centro Hospitalar Universitário de Santo António, Largo Prof. Abel Salazar, 4099-001, Porto, Portugal.; Multidisciplinary Unit for Biomedical Research (UMIB), Institute of Biomedical Sciences Abel Salazar (ICBAS), University of Porto, Jorge Viterbo Ferreira Street, 228, 4050-313, Porto, Portugal.; School of Medicine, Life and Health Sciences Research Institute (ICVS), University of Minho, Gualtar Campus, 4710-057, Braga, Portugal.; Laranjeira F; Unit of Medical Genetics, Jacinto Magalhães Medical Genetics Center, Centro Hospitalar Universitário de Santo António, Largo Prof. Abel Salazar, 4099-001, Porto, Portugal.; School of Medicine, Life and Health Sciences Research Institute (ICVS), University of Minho, Gualtar Campus, 4710-057, Braga, Portugal.; ITR - Laboratory for Integrative and Translational Research in Population Health, Jorge Viterbo Ferreira Street, 228, 4050-313, Porto, Portugal.; Sánchez-Tamayo T; Department of Pediatrics, Hospital Regional Universitario de Málaga, Avenida de Carlos Haya, S/N, 29010, Málaga, Spain.; Sánchez-Pintos P; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Neonatology, Santiago de Compostela University Clinical Hospital, Choupana Street, 15704, Santiago de Compostela, Spain.; IDIS-Health Research Institute of Santiago de Compostela, Santiago de Compostela University Clinical Hospital, Choupana Street, 15704, Santiago de Compostela, Spain.; European Reference Network for Hereditary Metabolic Disorders (MetabERN), Santiago de Compostela University Clinical Hospital, Choupana Street, 15704, Santiago de Compostela, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Monforte de Lemos Street, 3-5, 28029, Madrid, Spain.; Fernández-Feijoo CD; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Neonatology, Santiago de Compostela University Clinical Hospital, Choupana Street, 15704, Santiago de Compostela, Spain.; IDIS-Health Research Institute of Santiago de Compostela, Santiago de Compostela University Clinical Hospital, Choupana Street, 15704, Santiago de Compostela, Spain.; Red RICORS-SAMID, ISCIII, Madrid, Spain.; Pérez-Muñuzuri A; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Neonatology, Santiago de Compostela University Clinical Hospital, Choupana Street, 15704, Santiago de Compostela, Spain.; IDIS-Health Research Institute of Santiago de Compostela, Santiago de Compostela University Clinical Hospital, Choupana Street, 15704, Santiago de Compostela, Spain.; Red RICORS-SAMID, ISCIII, Madrid, Spain.; Couce ML; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Neonatology, Santiago de Compostela University Clinical Hospital, Choupana Street, 15704, Santiago de Compostela, Spain. maria.luz.couce.pico@sergas.es.; IDIS-Health Research Institute of Santiago de Compostela, Santiago de Compostela University Clinical Hospital, Choupana Street, 15704, Santiago de Compostela, Spain. maria.luz.couce.pico@sergas.es.; European Reference Network for Hereditary Metabolic Disorders (MetabERN), Santiago de Compostela University Clinical Hospital, Choupana Street, 15704, Santiago de Compostela, Spain. maria.luz.couce.pico@sergas.es.; Faculty of Medicine, University of Santiago de Compostela, Rúa de San Francisco, s/n, 15782, Santiago de Compostela, A Coruña, Spain. maria.luz.couce.pico@sergas.es.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Monforte de Lemos Street, 3-5, 28029, Madrid, Spain. maria.luz.couce.pico@sergas.es.; Red RICORS-SAMID, ISCIII, Madrid, Spain. maria.luz.couce.pico@sergas.es.

Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1076 (Electronic) Linking ISSN: 03406199 NLM ISO Abbreviation: Eur J Pediatr Subsets: MEDLINE

López-Valverde L; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, RICORS-SAMID, CIBERER, University Clinical Hospital of Santiago de Compostela, Choupana s/n, 15706 Santiago de Compostela, A Coruña, Spain; Health Research Institute of Santiago de Compostela (IDIS), University Clinical Hospital of Santiago de Compostela, Choupana s/n, 15706 Santiago de Compostela, A Coruña, Spain. Electronic address: laura.lopez.valverde@sergas.es.; Vázquez-Mosquera ME; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, RICORS-SAMID, CIBERER, University Clinical Hospital of Santiago de Compostela, Choupana s/n, 15706 Santiago de Compostela, A Coruña, Spain; Health Research Institute of Santiago de Compostela (IDIS), University Clinical Hospital of Santiago de Compostela, Choupana s/n, 15706 Santiago de Compostela, A Coruña, Spain. Electronic address: maria.eugenia.vazquez.mosquesanora@sergas.es.; Colón-Mejeras C; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, RICORS-SAMID, CIBERER, University Clinical Hospital of Santiago de Compostela, Choupana s/n, 15706 Santiago de Compostela, A Coruña, Spain; Health Research Institute of Santiago de Compostela (IDIS), University Clinical Hospital of Santiago de Compostela, Choupana s/n, 15706 Santiago de Compostela, A Coruña, Spain. Electronic address: cristobal.colon.mejeras@sergas.es.; Álvarez JV; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, RICORS-SAMID, CIBERER, University Clinical Hospital of Santiago de Compostela, Choupana s/n, 15706 Santiago de Compostela, A Coruña, Spain; Health Research Institute of Santiago de Compostela (IDIS), University Clinical Hospital of Santiago de Compostela, Choupana s/n, 15706 Santiago de Compostela, A Coruña, Spain. Electronic address: jose.victor.alvarez.gonzalez@sergas.es.; López-Pardo BM; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, RICORS-SAMID, CIBERER, University Clinical Hospital of Santiago de Compostela, Choupana s/n, 15706 Santiago de Compostela, A Coruña, Spain; Health Research Institute of Santiago de Compostela (IDIS), University Clinical Hospital of Santiago de Compostela, Choupana s/n, 15706 Santiago de Compostela, A Coruña, Spain. Electronic address: betariz.martin.lopezpardo@sergas.es.; López LL; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, RICORS-SAMID, CIBERER, University Clinical Hospital of Santiago de Compostela, Choupana s/n, 15706 Santiago de Compostela, A Coruña, Spain; Health Research Institute of Santiago de Compostela (IDIS), University Clinical Hospital of Santiago de Compostela, Choupana s/n, 15706 Santiago de Compostela, A Coruña, Spain. Electronic address: lluis.miguel.lis.lopez@sergas.es.; Sánchez-Martínez R; Internal Medicine Department, Alicante General University Hospital-Alicante Institute of Health and Biomedical Research (ISABIAL), Pintor Baeza 12, 03010 Alicante, Spain. Electronic address: sanchez_rosmar@gva.es.; López-Mendoza M; Department of Nephrology, Hospital Universitario Virgen del Rocío, Manuel Siurot s/n, 41013 Sevilla, Spain.; López-Rodríguez M; Internal Medicine Department, Hospital Universitario Ramón y Cajal, IRYCIS, Colmenar Viejo, 28034 Madrid, Spain; Faculty of Medicine and Health Sciences, Universidad de Alcalá (UAH), Av. de Madrid, 28871 Alcalá de Henares, Spain. Electronic address: monicaa.lopez@salud.madrid.org.; Villacorta-Argüelles E; Department of Cardiology, Complejo Asistencial Universitario de Salamanca, P°. de San Vicente 58, 37007 Salamanca, Spain. Electronic address: evillacorta@saludcastillayleon.es.; Goicoechea-Diezhandino MA; Nephrology Department, Hospital Gregorio Marañón, Dr. Esquerdo 46, 28007 Madrid, Spain.; Guerrero-Márquez FJ; Department of Cardiology, Internal Medicine Service, Hospital de la Serranía, San Pedro, 29400 Ronda, Málaga, Spain.; Ortolano S; Rare Diseases and Pediatric Medicine Research Group, Galicia Sur Health Research Institute-SERGAS-UVIGO, Clara Campoamor 341, 36213 Vigo, Spain. Electronic address: saida.ortolano@iisgaliciasur.es.; Leao-Teles E; Centro de Referência de Doenças Hereditárias do Metabolismo, Centro Hospitalar Universitário de São João, Prof. Hernâni Monteiro, 4200-319 Porto, Portugal.; Hermida-Ameijeiras Á; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, RICORS-SAMID, CIBERER, University Clinical Hospital of Santiago de Compostela, Choupana s/n, 15706 Santiago de Compostela, A Coruña, Spain; Health Research Institute of Santiago de Compostela (IDIS), University Clinical Hospital of Santiago de Compostela, Choupana s/n, 15706 Santiago de Compostela, A Coruña, Spain. Electronic address: alvaro.hermida.ameijeiras@sergas.es.; Couce ML; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, RICORS-SAMID, CIBERER, University Clinical Hospital of Santiago de Compostela, Choupana s/n, 15706 Santiago de Compostela, A Coruña, Spain; Health Research Institute of Santiago de Compostela (IDIS), University Clinical Hospital of Santiago de Compostela, Choupana s/n, 15706 Santiago de Compostela, A Coruña, Spain. Electronic address: maria.luz.couce.pico@sergas.es.

Publisher: Academic Press Country of Publication: United States NLM ID: 9500169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-953X (Electronic) Linking ISSN: 09699961 NLM ISO Abbreviation: Neurobiol Dis Subsets: MEDLINE

Picáns-Leis R; Neonatology Department, Metabolic Unit, RICORS-SAMID, CIBERER, University Clinical Hospital of Santiago de Compostela, Spain; Health Research Institute of Santiago de Compostela (IDIS), Spain. Electronic address: rosaura.picans.leis@sergas.es.; Vázquez-Mosquera ME; Neonatology Department, Metabolic Unit, RICORS-SAMID, CIBERER, University Clinical Hospital of Santiago de Compostela, Spain; Health Research Institute of Santiago de Compostela (IDIS), Spain. Electronic address: maria.eugenia.vazquez.mosquera@sergas.es.; Pereira-Hernández M; Health Research Institute of Santiago de Compostela (IDIS), Spain; Group of Genetics and Developmental Biology of Renal Diseases, Nephrology Laboratory, University Clinical Hospital of Santiago de Compostela, Spain; RICORS2040 (Kidney Disease), Santiago de Compostela, Spain. Electronic address: maria.pereira.hernandez@sergas.es.; Vizoso-González M; Health Research Institute of Santiago de Compostela (IDIS), Spain; Group of Genetics and Developmental Biology of Renal Diseases, Nephrology Laboratory, University Clinical Hospital of Santiago de Compostela, Spain. Electronic address: martavizosoglez@gmail.com.; López-Valverde L; Neonatology Department, Metabolic Unit, RICORS-SAMID, CIBERER, University Clinical Hospital of Santiago de Compostela, Spain; Health Research Institute of Santiago de Compostela (IDIS), Spain. Electronic address: laura.lopez.valverde@sergas.es.; Barbosa-Gouveia S; Neonatology Department, Metabolic Unit, RICORS-SAMID, CIBERER, University Clinical Hospital of Santiago de Compostela, Spain; Health Research Institute of Santiago de Compostela (IDIS), Spain. Electronic address: sofia.isabel.barbosa.sousa.gouveia@sergas.es.; López-Suárez O; Neonatology Department, Metabolic Unit, RICORS-SAMID, CIBERER, University Clinical Hospital of Santiago de Compostela, Spain; Health Research Institute of Santiago de Compostela (IDIS), Spain. Electronic address: olalla.lopez.suarez@sergas.es.; López-Sanguos C; Neonatology Department, Metabolic Unit, RICORS-SAMID, CIBERER, University Clinical Hospital of Santiago de Compostela, Spain; Health Research Institute of Santiago de Compostela (IDIS), Spain. Electronic address: carolina.lopez.sanguos@sergas.es.; Bravo SB; Health Research Institute of Santiago de Compostela (IDIS), Spain; Proteomic Platform, University Clinical Hospital of Santiago de Compostela, Spain. Electronic address: sbbravo@gmail.com.; García-González MA; Health Research Institute of Santiago de Compostela (IDIS), Spain; Group of Genetics and Developmental Biology of Renal Diseases, Nephrology Laboratory, University Clinical Hospital of Santiago de Compostela, Spain; RICORS2040 (Kidney Disease), Santiago de Compostela, Spain. Electronic address: miguel.garcia.gonzalez@sergas.es.; Couce ML; Neonatology Department, Metabolic Unit, RICORS-SAMID, CIBERER, University Clinical Hospital of Santiago de Compostela, Spain; Health Research Institute of Santiago de Compostela (IDIS), Spain. Electronic address: maria.luz.couce.pico@sergas.es.

Publisher: Elsevier Country of Publication: England NLM ID: 8309603 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-1983 (Electronic) Linking ISSN: 02615614 NLM ISO Abbreviation: Clin Nutr Subsets: MEDLINE

Sánchez-Pintos P; Diagnosis and Treatment Unit of Congenital Metabolic Diseases (UDyTEMC), Clinical University Hospital of Santiago de Compostela. National Reference Center for Metabolic Diseases (C.S.U.R.), Santiago de Compostela, Spain. paula.sanchez.pintos@sergas.es.; IDIS-Health Research Institute of Santiago de Compostela, Santiago de Compostela, 15704, Spain. paula.sanchez.pintos@sergas.es.; CIBERER, Instituto Salud Carlos III, Madrid, 28029, Spain. paula.sanchez.pintos@sergas.es.; MetabERN, Via Pozzuolo, 330, Udine, 33100, Italy. paula.sanchez.pintos@sergas.es.; Faculty of Medicine, Santiago de Compostela University, Santiago de Compostela, 15704, Spain. paula.sanchez.pintos@sergas.es.; Camba-Garea MJ; Diagnosis and Treatment Unit of Congenital Metabolic Diseases (UDyTEMC), Clinical University Hospital of Santiago de Compostela. National Reference Center for Metabolic Diseases (C.S.U.R.), Santiago de Compostela, Spain.; IDIS-Health Research Institute of Santiago de Compostela, Santiago de Compostela, 15704, Spain.; MetabERN, Via Pozzuolo, 330, Udine, 33100, Italy.; López-Pardo BM; Diagnosis and Treatment Unit of Congenital Metabolic Diseases (UDyTEMC), Clinical University Hospital of Santiago de Compostela. National Reference Center for Metabolic Diseases (C.S.U.R.), Santiago de Compostela, Spain.; IDIS-Health Research Institute of Santiago de Compostela, Santiago de Compostela, 15704, Spain.; MetabERN, Via Pozzuolo, 330, Udine, 33100, Italy.; de Juan JAC; Diagnosis and Treatment Unit of Congenital Metabolic Diseases (UDyTEMC), Clinical University Hospital of Santiago de Compostela. National Reference Center for Metabolic Diseases (C.S.U.R.), Santiago de Compostela, Spain.; IDIS-Health Research Institute of Santiago de Compostela, Santiago de Compostela, 15704, Spain.; MetabERN, Via Pozzuolo, 330, Udine, 33100, Italy.; Bóveda MD; Diagnosis and Treatment Unit of Congenital Metabolic Diseases (UDyTEMC), Clinical University Hospital of Santiago de Compostela. National Reference Center for Metabolic Diseases (C.S.U.R.), Santiago de Compostela, Spain.; IDIS-Health Research Institute of Santiago de Compostela, Santiago de Compostela, 15704, Spain.; MetabERN, Via Pozzuolo, 330, Udine, 33100, Italy.; Barbosa-Gouveia S; Diagnosis and Treatment Unit of Congenital Metabolic Diseases (UDyTEMC), Clinical University Hospital of Santiago de Compostela. National Reference Center for Metabolic Diseases (C.S.U.R.), Santiago de Compostela, Spain.; IDIS-Health Research Institute of Santiago de Compostela, Santiago de Compostela, 15704, Spain.; MetabERN, Via Pozzuolo, 330, Udine, 33100, Italy.; Vázquez-Mosquera ME; Diagnosis and Treatment Unit of Congenital Metabolic Diseases (UDyTEMC), Clinical University Hospital of Santiago de Compostela. National Reference Center for Metabolic Diseases (C.S.U.R.), Santiago de Compostela, Spain.; IDIS-Health Research Institute of Santiago de Compostela, Santiago de Compostela, 15704, Spain.; MetabERN, Via Pozzuolo, 330, Udine, 33100, Italy.; Barros-Angueira F; IDIS-Health Research Institute of Santiago de Compostela, Santiago de Compostela, 15704, Spain.; CIBERER, Instituto Salud Carlos III, Madrid, 28029, Spain.; Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, Spain.; Patiño RF; Diagnosis and Treatment Unit of Congenital Metabolic Diseases (UDyTEMC), Clinical University Hospital of Santiago de Compostela. National Reference Center for Metabolic Diseases (C.S.U.R.), Santiago de Compostela, Spain.; Couce ML; Diagnosis and Treatment Unit of Congenital Metabolic Diseases (UDyTEMC), Clinical University Hospital of Santiago de Compostela. National Reference Center for Metabolic Diseases (C.S.U.R.), Santiago de Compostela, Spain.; IDIS-Health Research Institute of Santiago de Compostela, Santiago de Compostela, 15704, Spain.; CIBERER, Instituto Salud Carlos III, Madrid, 28029, Spain.; MetabERN, Via Pozzuolo, 330, Udine, 33100, Italy.; Faculty of Medicine, Santiago de Compostela University, Santiago de Compostela, 15704, Spain.

Publisher: BioMed Central Country of Publication: England NLM ID: 100967804 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2431 (Electronic) Linking ISSN: 14712431 NLM ISO Abbreviation: BMC Pediatr Subsets: MEDLINE

López-Valverde L; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases. RICORS-SAMID, CIBERER. University Clinical Hospital of Santiago de Compostela, Choupana s/n, Santiago de Compostela, A Coruña 15706, Spain; Health Research Institute of Santiago de Compostela (IDIS), University Clinical Hospital of Santiago de Compostela, Choupana s/n, Santiago de Compostela, A Coruña 15706, Spain.; Vázquez-Mosquera ME; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases. RICORS-SAMID, CIBERER. University Clinical Hospital of Santiago de Compostela, Choupana s/n, Santiago de Compostela, A Coruña 15706, Spain; Health Research Institute of Santiago de Compostela (IDIS), University Clinical Hospital of Santiago de Compostela, Choupana s/n, Santiago de Compostela, A Coruña 15706, Spain.; Colón-Mejeras C; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases. RICORS-SAMID, CIBERER. University Clinical Hospital of Santiago de Compostela, Choupana s/n, Santiago de Compostela, A Coruña 15706, Spain; Health Research Institute of Santiago de Compostela (IDIS), University Clinical Hospital of Santiago de Compostela, Choupana s/n, Santiago de Compostela, A Coruña 15706, Spain.; Bravo SB; Health Research Institute of Santiago de Compostela (IDIS), University Clinical Hospital of Santiago de Compostela, Choupana s/n, Santiago de Compostela, A Coruña 15706, Spain; Proteomic Platform, University Clinical Hospital of Santiago de Compostela, Choupana s/n, Santiago de Compostela, A Coruña 15706, Spain.; Barbosa-Gouveia S; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases. RICORS-SAMID, CIBERER. University Clinical Hospital of Santiago de Compostela, Choupana s/n, Santiago de Compostela, A Coruña 15706, Spain; Health Research Institute of Santiago de Compostela (IDIS), University Clinical Hospital of Santiago de Compostela, Choupana s/n, Santiago de Compostela, A Coruña 15706, Spain.; Álvarez JV; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases. RICORS-SAMID, CIBERER. University Clinical Hospital of Santiago de Compostela, Choupana s/n, Santiago de Compostela, A Coruña 15706, Spain; Health Research Institute of Santiago de Compostela (IDIS), University Clinical Hospital of Santiago de Compostela, Choupana s/n, Santiago de Compostela, A Coruña 15706, Spain.; Sánchez-Martínez R; Internal Medicine Department, Alicante General University Hospital-Alicante Institute of Health and Biomedical Research (ISABIAL), Pintor Baeza 12, Alicante 03010, Spain.; López-Mendoza M; Department of Nephrology, Hospital Universitario Virgen del Rocío, Manuel Siurot s/n, Sevilla 41013, Spain.; López-Rodríguez M; Internal Medicine Department, Hospital Universitario Ramón y Cajal, IRYCIS, Colmenar Viejo, Madrid 28034, Spain; Faculty of Medicine and Health Sciences, Universidad de Alcalá (UAH), Av. de Madrid, Alcalá de Henares 28871, Spain.; Villacorta-Argüelles E; Department of Cardiology, Complejo Asistencial Universitario de Salamanca, P°. de San Vicente 58, Salamanca 37007, Spain.; Goicoechea-Diezhandino MA; Nephrology Department, Hospital Gregorio Marañón, Dr. Esquerdo 46, Madrid 28007, Spain.; Guerrero-Márquez FJ; Department of Cardiology, Internal Medicine Service, Hospital de la Serranía, San Pedro, Ronda, Málaga 29400, Spain.; Ortolano S; Rare Diseases and Pediatric Medicine Research Group, Galicia Sur Health Research Institute-SERGAS-UVIGO, Clara Campoamor 341, Vigo 36213, Spain.; Leao-Teles E; Centro de Referência de Doenças Hereditárias do Metabolismo, Centro Hospitalar Universitário de São João, Prof. Hernâni Monteiro, Porto 4200-319, Portugal.; Hermida-Ameijeiras Á; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases. RICORS-SAMID, CIBERER. University Clinical Hospital of Santiago de Compostela, Choupana s/n, Santiago de Compostela, A Coruña 15706, Spain; Health Research Institute of Santiago de Compostela (IDIS), University Clinical Hospital of Santiago de Compostela, Choupana s/n, Santiago de Compostela, A Coruña 15706, Spain. Electronic address: alvaro.hermida.ameijeiras@sergas.es.; Couce ML; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases. RICORS-SAMID, CIBERER. University Clinical Hospital of Santiago de Compostela, Choupana s/n, Santiago de Compostela, A Coruña 15706, Spain; Health Research Institute of Santiago de Compostela (IDIS), University Clinical Hospital of Santiago de Compostela, Choupana s/n, Santiago de Compostela, A Coruña 15706, Spain. Electronic address: maria.luz.couce.pico@sergas.es.

Publisher: Elsevier Country of Publication: United States NLM ID: 101280339 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-1810 (Electronic) Linking ISSN: 18781810 NLM ISO Abbreviation: Transl Res Subsets: MEDLINE

Vázquez-Mosquera ME; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Hospital Clínico Universitario de Santiago de Compostela, Santiago de Compostela, Spain.; Instituto de Investigación Sanitaria de Santiago (IDIS), Santiago de Compostela, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.; Universidad de Santiago de Compostela, Santiago de Compostela, Spain.; European Reference Network for Hereditary Metabolic Disorders (MetabERN), Padova, Italy.; González-Vioque E; Division of Clinical Biochemistry, Hospital Universitario Puerta de Hierro-Majadahonda, Madrid, Spain.; Barbosa-Gouveia S; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Hospital Clínico Universitario de Santiago de Compostela, Santiago de Compostela, Spain.; Instituto de Investigación Sanitaria de Santiago (IDIS), Santiago de Compostela, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.; Universidad de Santiago de Compostela, Santiago de Compostela, Spain.; European Reference Network for Hereditary Metabolic Disorders (MetabERN), Padova, Italy.; Bellido-Guerrero D; Division of Endocrinology, Complejo Hospitalario Universitario de Ferrol, Ferrol, Spain.; Tejera-Pérez C; Division of Endocrinology, Complejo Hospitalario Universitario de Ferrol, Ferrol, Spain.; Martinez-Olmos MA; Instituto de Investigación Sanitaria de Santiago (IDIS), Santiago de Compostela, Spain.; Universidad de Santiago de Compostela, Santiago de Compostela, Spain.; Division of Endocrinology and Nutrition, Hospital Clínico Universitario de Santiago de Compostela, Santiago de Compostela, Spain.; Centro de Investigación Biomédica en Red de Fisiopatología de la Obesidad y Nutrición (CIBERobn), Madrid, Spain.; Fernández-Pombo A; Instituto de Investigación Sanitaria de Santiago (IDIS), Santiago de Compostela, Spain.; Universidad de Santiago de Compostela, Santiago de Compostela, Spain.; Division of Endocrinology and Nutrition, Hospital Clínico Universitario de Santiago de Compostela, Santiago de Compostela, Spain.; Centro de Investigación Biomédica en Red de Fisiopatología de la Obesidad y Nutrición (CIBERobn), Madrid, Spain.; Castaño-González LA; Endocrinology and Diabetes Research Group, Instituto de Investigación Sanitaria BioCruces, Barakaldo, Spain.; Chans-Gerpe R; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Hospital Clínico Universitario de Santiago de Compostela, Santiago de Compostela, Spain.; Instituto de Investigación Sanitaria de Santiago (IDIS), Santiago de Compostela, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.; Universidad de Santiago de Compostela, Santiago de Compostela, Spain.; European Reference Network for Hereditary Metabolic Disorders (MetabERN), Padova, Italy.; Couce ML; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Hospital Clínico Universitario de Santiago de Compostela, Santiago de Compostela, Spain. maria.luz.couce.pico@sergas.es.; Instituto de Investigación Sanitaria de Santiago (IDIS), Santiago de Compostela, Spain. maria.luz.couce.pico@sergas.es.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain. maria.luz.couce.pico@sergas.es.; Universidad de Santiago de Compostela, Santiago de Compostela, Spain. maria.luz.couce.pico@sergas.es.; European Reference Network for Hereditary Metabolic Disorders (MetabERN), Padova, Italy. maria.luz.couce.pico@sergas.es.

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Barbosa-Gouveia S; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Paediatrics, IDIS-Health Research Institute of Santiago de Compostela, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), European Reference Network for Hereditary Metabolic Disorders (MetabERN), Santiago de Compostela University Clinical Hospital, 15704 Santiago de Compostela, Spain.; Vázquez-Mosquera ME; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Paediatrics, IDIS-Health Research Institute of Santiago de Compostela, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), European Reference Network for Hereditary Metabolic Disorders (MetabERN), Santiago de Compostela University Clinical Hospital, 15704 Santiago de Compostela, Spain.; González-Vioque E; Department of Clinical Biochemistry, Puerta de Hierro-Majadahonda University Hospital, 28222 Majadahonda, Spain.; Álvarez JV; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Paediatrics, IDIS-Health Research Institute of Santiago de Compostela, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), European Reference Network for Hereditary Metabolic Disorders (MetabERN), Santiago de Compostela University Clinical Hospital, 15704 Santiago de Compostela, Spain.; Chans R; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Paediatrics, IDIS-Health Research Institute of Santiago de Compostela, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), European Reference Network for Hereditary Metabolic Disorders (MetabERN), Santiago de Compostela University Clinical Hospital, 15704 Santiago de Compostela, Spain.; Laranjeira F; Biochemical Genetics Unit, Centro de Genética Médica Doutor Jacinto Magalhães, 4050-466 Porto, Portugal.; Martins E; Centro Materno-Infantil do Norte, Centro Hospitalar Universitário do Porto (CHUP), Coordinator of the Centro de Referência de Doenças Hereditárias do Metabolismo do CHUP, 4050-466 Porto, Portugal.; Ferreira AC; Hospital D. Estefânia, Centro Hospitalar de Lisboa Central (CHLC), Coordinator of the Centro de Referência de Doenças Hereditárias do Metabolismo do CHLC, 1169-050 Lisboa, Portugal.; Avila-Alvarez A; Neonatology Unit, Pediatrics Department, Complexo Hospitalario Universitario de A Coruña, SERGAS, 15006 A Coruña, Spain.; Couce ML; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Paediatrics, IDIS-Health Research Institute of Santiago de Compostela, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), European Reference Network for Hereditary Metabolic Disorders (MetabERN), Santiago de Compostela University Clinical Hospital, 15704 Santiago de Compostela, Spain.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Vázquez-Mosquera ME; Unidad de Genómica, Grupo de Investigación en Reumatología (GIR), Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC), Universidade da Coruña (UDC), A Coruña, Spain.; Fernández-Moreno M; Unidad de Genómica, Grupo de Investigación en Reumatología (GIR), Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC), Universidade da Coruña (UDC), A Coruña, Spain.; Centro de Investigación Biomédica en Red de Bioingeniería, Biomateriales y Nanomedicina (CIBER-BBN), Madrid, Spain.; Cortés-Pereira E; Unidad de Genómica, Grupo de Investigación en Reumatología (GIR), Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC), Universidade da Coruña (UDC), A Coruña, Spain.; Relaño S; Unidad de Genómica, Grupo de Investigación en Reumatología (GIR), Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC), Universidade da Coruña (UDC), A Coruña, Spain.; Dalmao-Fernández A; Unidad de Genómica, Grupo de Investigación en Reumatología (GIR), Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC), Universidade da Coruña (UDC), A Coruña, Spain.; Ramos-Louro P; Unidad de Genómica, Grupo de Investigación en Reumatología (GIR), Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC), Universidade da Coruña (UDC), A Coruña, Spain.; Durán Sotuela A; Unidad de Genómica, Grupo de Investigación en Reumatología (GIR), Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC), Universidade da Coruña (UDC), A Coruña, Spain.; Rego-Pérez I; Unidad de Genómica, Grupo de Investigación en Reumatología (GIR), Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC), Universidade da Coruña (UDC), A Coruña, Spain.; Blanco FJ; Unidad de Genómica, Grupo de Investigación en Reumatología (GIR), Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC), Universidade da Coruña (UDC), A Coruña, Spain.; Grupo de Investigación en Reumatología y Salud, Departamento de Fisioterapia, Medicina y Ciencias Biomédicas, Facultad de Fisioterapia, Universidade da Coruña (UDC), A Coruña, Spain.

Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101549006 Publication Model: eCollection Cited Medium: Print ISSN: 1664-042X (Print) Linking ISSN: 1664042X NLM ISO Abbreviation: Front Physiol Subsets: PubMed not MEDLINE

Cortés-Pereira E; Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC), and Universidade da Coruña, A Coruña, Spain.; Fernández-Tajes J; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.; Fernández-Moreno M; INIBIC, CHUAC, Universidade da Coruña, and CIBER-BBN, A Coruña, Spain.; Vázquez-Mosquera ME; Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC), and Universidade da Coruña, A Coruña, Spain.; Relaño S; Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC), and Universidade da Coruña, A Coruña, Spain.; Ramos-Louro P; Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC), and Universidade da Coruña, A Coruña, Spain.; Durán-Sotuela A; Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC), and Universidade da Coruña, A Coruña, Spain.; Dalmao-Fernández A; Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC), and Universidade da Coruña, A Coruña, Spain.; Oreiro N; Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC), and Universidade da Coruña, A Coruña, Spain.; Blanco FJ; Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC), and Universidade da Coruña, A Coruña, Spain.; Rego-Pérez I; Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC), and Universidade da Coruña, A Coruña, Spain.

Publisher: Wiley Country of Publication: United States NLM ID: 101623795 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2326-5205 (Electronic) Linking ISSN: 23265191 NLM ISO Abbreviation: Arthritis Rheumatol Subsets: MEDLINE

Barbosa-Gouveia S; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Paediatrics, Santiago de Compostela University Clinical Hospital, 15704 Santiago de Compostela, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), IDIS-Health Research Institute of Santiago de Compostela, Santiago de Compostela University Clinical Hospital, European Reference Network for Hereditary Metabolic Disorders (MetabERN), 15704 Santiago de Compostela, Spain.; Vázquez-Mosquera ME; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Paediatrics, Santiago de Compostela University Clinical Hospital, 15704 Santiago de Compostela, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), IDIS-Health Research Institute of Santiago de Compostela, Santiago de Compostela University Clinical Hospital, European Reference Network for Hereditary Metabolic Disorders (MetabERN), 15704 Santiago de Compostela, Spain.; González-Vioque E; Department of Clinical Biochemistry, Puerta de Hierro-Majadahonda University Hospital, 28222 Majadahonda, Spain.; Hermida-Ameijeiras Á; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Paediatrics, Santiago de Compostela University Clinical Hospital, 15704 Santiago de Compostela, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), IDIS-Health Research Institute of Santiago de Compostela, Santiago de Compostela University Clinical Hospital, European Reference Network for Hereditary Metabolic Disorders (MetabERN), 15704 Santiago de Compostela, Spain.; Sánchez-Pintos P; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Paediatrics, Santiago de Compostela University Clinical Hospital, 15704 Santiago de Compostela, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), IDIS-Health Research Institute of Santiago de Compostela, Santiago de Compostela University Clinical Hospital, European Reference Network for Hereditary Metabolic Disorders (MetabERN), 15704 Santiago de Compostela, Spain.; de Castro MJ; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Paediatrics, Santiago de Compostela University Clinical Hospital, 15704 Santiago de Compostela, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), IDIS-Health Research Institute of Santiago de Compostela, Santiago de Compostela University Clinical Hospital, European Reference Network for Hereditary Metabolic Disorders (MetabERN), 15704 Santiago de Compostela, Spain.; León SR; Genetics Department, Hospital Universitario de Getafe, 28905 Madrid, Spain.; Gil-Fournier B; Genetics Department, Hospital Universitario de Getafe, 28905 Madrid, Spain.; Domínguez-González C; Neuromuscular Unit, Imas12 Research Institute, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.; Center for Biomedical Network Research On Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Camacho Salas A; Pediatric Neurology Unit, Hospital Universitario 12 de Octubre, Complutense University of Madrid, 28041 Madrid, Spain.; Negrão L; Neuromuscular Diseases Unit, Neurology Service, Centro Hospitalar e Universitário de Coimbra, 3000-075 Coimbra, Portugal.; Fineza I; Pediatric Neurology Department, Child Developmental Center, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra Coimbra Portugal, 3000-075 Coimbra, Portugal.; Laranjeira F; Biochemical Genetics Unit, Centro de Genética Médica Doutor Jacinto Magalhães, 4050-466 Porto, Portugal.; Couce ML; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Paediatrics, Santiago de Compostela University Clinical Hospital, 15704 Santiago de Compostela, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), IDIS-Health Research Institute of Santiago de Compostela, Santiago de Compostela University Clinical Hospital, European Reference Network for Hereditary Metabolic Disorders (MetabERN), 15704 Santiago de Compostela, Spain.

Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101606588 Publication Model: Electronic Cited Medium: Print ISSN: 2077-0383 (Print) Linking ISSN: 20770383 NLM ISO Abbreviation: J Clin Med Subsets: PubMed not MEDLINE

Barbosa-Gouveia S; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Paediatrics, Santiago de Compostela University Clinical Hospital, 15706 Santiago de Compostela, Spain.; Rare Diseases Networking Biomedical Research Centre (CIBERER), IDIS-Health Research Institute of Santiago de Compostela, Santiago de Compostela University Clinical Hospital, European Reference Network for Hereditary Metabolic Disorders (MetabERN), 15706 Santiago de Compostela, Spain.; Vázquez-Mosquera ME; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Paediatrics, Santiago de Compostela University Clinical Hospital, 15706 Santiago de Compostela, Spain.; Rare Diseases Networking Biomedical Research Centre (CIBERER), IDIS-Health Research Institute of Santiago de Compostela, Santiago de Compostela University Clinical Hospital, European Reference Network for Hereditary Metabolic Disorders (MetabERN), 15706 Santiago de Compostela, Spain.; Gonzalez-Vioque E; Clinical Biochemistry Service, Puerta de Hierro-Majadahonda University Hospital, 28222 Majadahonda, Spain.; Hermida-Ameijeiras Á; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Paediatrics, Santiago de Compostela University Clinical Hospital, 15706 Santiago de Compostela, Spain.; Rare Diseases Networking Biomedical Research Centre (CIBERER), IDIS-Health Research Institute of Santiago de Compostela, Santiago de Compostela University Clinical Hospital, European Reference Network for Hereditary Metabolic Disorders (MetabERN), 15706 Santiago de Compostela, Spain.; Valverde LL; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Paediatrics, Santiago de Compostela University Clinical Hospital, 15706 Santiago de Compostela, Spain.; Rare Diseases Networking Biomedical Research Centre (CIBERER), IDIS-Health Research Institute of Santiago de Compostela, Santiago de Compostela University Clinical Hospital, European Reference Network for Hereditary Metabolic Disorders (MetabERN), 15706 Santiago de Compostela, Spain.; Armstrong-Moron J; Clinical Genetics, Molecular and Genetic Medicine Section, Hospital Sant Joan de Déu and Institut de Recerca Sant Joan de Déu, 08950 Esplugues de Llobregat, Spain.; CIBER-ER (Biomedical Network Research Center for Rare Diseases), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Fons-Estupiña MDC; CIBER-ER (Biomedical Network Research Center for Rare Diseases), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Pediatric Neurology Department, Institut de Recerca Sant Joan de Déu, Sant Joan de Déu University Hospital, 08950 Barcelona, Spain.; Wintjes LT; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Centre, 6525 GA Nijmegen, The Netherlands.; Kappen A; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Centre, 6525 GA Nijmegen, The Netherlands.; Rodenburg RJ; Department of Pediatrics, Radboud Centre for Mitochondrial Medicine, Radboud University Medical Centre, 6525 GA Nijmegen, The Netherlands.; Couce ML; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Paediatrics, Santiago de Compostela University Clinical Hospital, 15706 Santiago de Compostela, Spain.; Rare Diseases Networking Biomedical Research Centre (CIBERER), IDIS-Health Research Institute of Santiago de Compostela, Santiago de Compostela University Clinical Hospital, European Reference Network for Hereditary Metabolic Disorders (MetabERN), 15706 Santiago de Compostela, Spain.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

Fernández-Moreno M; Servicio de Reumatología, Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas, Universidade da Coruña (UDC), As Xubias.; CIBER-BBN Instituto de Salud Carlos III, INIBIC-CHUAC.; Soto-Hermida A; Servicio de Reumatología, Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas, Universidade da Coruña (UDC), As Xubias.; Vázquez-Mosquera ME; Servicio de Reumatología, Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas, Universidade da Coruña (UDC), As Xubias.; Cortés-Pereira E; Servicio de Reumatología, Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas, Universidade da Coruña (UDC), As Xubias.; Pértega S; Unidad de Epidemiología Clínica y Bioestadística.; Relaño S; Plataforma de Genómica, Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas, Universidade da Coruña (UDC), As Xubias, A Coruña, 15006, España, Spain.; Oreiro-Villar N; Servicio de Reumatología, Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas, Universidade da Coruña (UDC), As Xubias.; Fernández-López C; Servicio de Reumatología, Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas, Universidade da Coruña (UDC), As Xubias.; Blanco FJ; Servicio de Reumatología, Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas, Universidade da Coruña (UDC), As Xubias.; Rego-Pérez I; Servicio de Reumatología, Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas, Universidade da Coruña (UDC), As Xubias ignacio.rego.perez@sergas.es.

Publisher: Oxford University Press Country of Publication: England NLM ID: 100883501 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1462-0332 (Electronic) Linking ISSN: 14620324 NLM ISO Abbreviation: Rheumatology (Oxford) Subsets: MEDLINE

Fernández-Moreno M; Servicio de Reumatología, Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas, Universidade da Coruña (UDC), As Xubias, A Coruña, España.; Soto-Hermida A; Servicio de Reumatología, Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas, Universidade da Coruña (UDC), As Xubias, A Coruña, España.; Vázquez-Mosquera ME; Servicio de Reumatología, Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas, Universidade da Coruña (UDC), As Xubias, A Coruña, España.; Cortés-Pereira E; Servicio de Reumatología, Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas, Universidade da Coruña (UDC), As Xubias, A Coruña, España.; Relaño S; Plataforma de Genómica, Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas, Universidade da Coruña (UDC), As Xubias, A Coruña, España.; Hermida-Gómez T; Servicio de Reumatología, Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas, Universidade da Coruña (UDC), As Xubias, A Coruña, España.; Pértega S; Unidad de Epidemiología Clínica y Bioestadística, Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas, Universidade da Coruña (UDC), As Xubias, A Coruña, España.; Oreiro-Villar N; Servicio de Reumatología, Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas, Universidade da Coruña (UDC), As Xubias, A Coruña, España.; Fernández-López C; Servicio de Reumatología, Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas, Universidade da Coruña (UDC), As Xubias, A Coruña, España.; Garesse R; Departamento de Bioquímica, Instituto de Investigaciones Biomédicas 'Alberto Sols' UAM-CSIC y Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Universidad Autónoma de Madrid, Madrid, Spain.; Laboratorio de Enfermedades Mitocondriales, Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12) Madrid, Madrid, Spain.; Blanco FJ; Servicio de Reumatología, Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas, Universidade da Coruña (UDC), As Xubias, A Coruña, España.; Rego-Pérez I; Servicio de Reumatología, Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas, Universidade da Coruña (UDC), As Xubias, A Coruña, España.

Publisher: Elsevier Country of Publication: United States NLM ID: 0372355 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-2060 (Electronic) Linking ISSN: 00034967 NLM ISO Abbreviation: Ann Rheum Dis Subsets: MEDLINE

Fernández-Tajes J; Rheumatology Division, INIBIC-Complejo Hospitalario Universitario A Coruña (CHUAC), , Coruña, Spain.; Soto-Hermida A; Vázquez-Mosquera ME; Cortés-Pereira E; Mosquera A; Fernández-Moreno M; Oreiro N; Fernández-López C; Fernández JL; Rego-Pérez I; Blanco FJ

Publisher: Elsevier Country of Publication: United States NLM ID: 0372355 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-2060 (Electronic) Linking ISSN: 00034967 NLM ISO Abbreviation: Ann Rheum Dis Subsets: MEDLINE