부산대학교 도서관

Martín López-Pardo, B.; Barbosa-Gouveia, S.; Vázquez-Mosquera, M.-E.; Sánchez-Pintos, P.; Fernández-Feijoo, C.D.; Pérez-Muñuzuri, A.; Couce, M.-L.; Reyes, F.; Falcão Reis, C.; Laranjeira, F.; Sánchez-Tamayo, T.

In: European Journal of Pediatrics. (European Journal of Pediatrics, July 2025, 184(7))

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

Santos Monteiro S; Division of Endocrinology, Diabetes and Metabolism, Centro Hospitalar Universitário do Porto, Largo Professor Abel Salazar, 4099-001, Porto, Portugal. silviamsmonteiro@hotmail.com.; da Silva Santos T; Division of Endocrinology, Diabetes and Metabolism, Centro Hospitalar Universitário do Porto, Largo Professor Abel Salazar, 4099-001, Porto, Portugal.; Fonseca L; Division of Endocrinology, Diabetes and Metabolism, Centro Hospitalar Universitário do Porto, Largo Professor Abel Salazar, 4099-001, Porto, Portugal.; Assunção G; Division of Endocrinology, Diabetes and Metabolism, Centro Hospitalar Universitário do Porto, Largo Professor Abel Salazar, 4099-001, Porto, Portugal.; Lopes AM; Division of Endocrinology, Diabetes and Metabolism, Centro Hospitalar Universitário do Porto, Largo Professor Abel Salazar, 4099-001, Porto, Portugal.; Duarte DB; Division of Endocrinology, Diabetes and Metabolism, Centro Hospitalar Universitário do Porto, Largo Professor Abel Salazar, 4099-001, Porto, Portugal.; Soares AR; Division of Medical Genetics, Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar Universitário do Porto, Porto, Portugal.; Laranjeira F; Division of Genetic Biochemistry. Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar Universitário do Porto, Porto, Portugal.; Unit for Multidisciplinar Biomedical Research (UMIB), Instituto de Ciências Biomédicas Abel Salazar. Universidade do Porto, Porto, Portugal.; Ribeiro I; Division of Genetic Biochemistry. Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar Universitário do Porto, Porto, Portugal.; Unit for Multidisciplinar Biomedical Research (UMIB), Instituto de Ciências Biomédicas Abel Salazar. Universidade do Porto, Porto, Portugal.; Pinto E; Division of Genetic Biochemistry. Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar Universitário do Porto, Porto, Portugal.; Rocha S; Division of Genetic Biochemistry. Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar Universitário do Porto, Porto, Portugal.; Barbosa Gouveia S; University Clinical Hospital of Santiago de Compostela. IDIS, CIBERER, MetabERN, 15701, Santiago de Compostela, Spain.; Vazquez-Mosquera ME; University Clinical Hospital of Santiago de Compostela. IDIS, CIBERER, MetabERN, 15701, Santiago de Compostela, Spain.; Oliveira MJ; Division of Pediatric Endocrinology. Department of Pediatrics. Centro Materno-Infantil do Norte, Centro Hospitalar Universitário do Porto, Porto, Portugal.; Borges T; Division of Pediatric Endocrinology. Department of Pediatrics. Centro Materno-Infantil do Norte, Centro Hospitalar Universitário do Porto, Porto, Portugal.; Cardoso MH; Division of Endocrinology, Diabetes and Metabolism, Centro Hospitalar Universitário do Porto, Largo Professor Abel Salazar, 4099-001, Porto, Portugal.

Publisher: Springer Verlag Country of Publication: Germany NLM ID: 9200299 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-5233 (Electronic) Linking ISSN: 09405429 NLM ISO Abbreviation: Acta Diabetol 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

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

Barbosa-Gouveia, S.; Vázquez-Mosquera, M.E.; Gonzalez-Vioque, E.; Hermida-Ameijeiras, Á.; Valverde, L.L.; Armstrong-Moron, J.; Fons-Estupiña, M.D.C.; Wintjes, L.T.; Kappen, Antonia; Rodenburg, R.J.; Couce, M.L.

Int J Mol Sci
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
instname
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
International Journal of Molecular Sciences; Volume 22; Issue 24; Pages: 13484
International Journal of Molecular Sciences, 22, 24

Sánchez-Pintos, P.; Camba-Garea, M.J.; López-Pardo, B.M.; de Juan, J.A.C.; Bóveda, M.D.; Barbosa-Gouveia, S.; Vázquez-Mosquera, M.E.; Patiño, R.F.; Couce, M.L.; Barros-Angueira, F.

In: BMC Pediatrics. (BMC Pediatrics, December 2024, 24(1))

Vazquez-Agra, N.; Lopez-Paz, J.-E.; Casariego-Vales, E.; Pose-Reino, A.; Hermida-Ameijeiras, A.; Cruces-Sande, A.; Barbosa-Gouveia, S.; Camafort, M.

In: Scientific Reports. (Scientific Reports, December 2024, 14(1))

Barbosa Gouveia, Andréa; Lunardi Mendes, Geovana Mendonça; Ebersöhn, Liesel; dos S. Ferraz, Marcos Alexandre; Kosaretsky, Sergey

Jornal de Políticas Educacionais; 2024, Vol. 18, p1-20, 20p

Barbosa-Gouveia, S.; González-Vioque, E.; Hermida, Á.; Suarez, M.U.; Martínez-González, M.J.; Borges, F.; Wintjes, L.; Kappen, A.; Rodenburg, R.J.; Couce, M.L.

Genes (Basel)
Minerva. Repositorio Institucional de la Universidad de Santiago de Compostela
instname
Minerva: Repositorio Institucional de la Universidad de Santiago de Compostela
Universidad de Santiago de Compostela (USC)
Genes
Volume 11
Issue 9
Genes, 11, 9

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

Vazquez-Agra N; Department of Internal Medicine, University Hospital of Santiago de Compostela, A Coruña, Spain. Electronic address: Nestor.Vazquez.Agra@sergas.es.; Fernandez-Crespo S; Department of Internal Medicine, Hospital of El Bierzo, Leon, Spain.; Marques-Afonso AT; Department of Internal Medicine, University Hospital of Santiago de Compostela, A Coruña, Spain.; Cruces-Sande A; Laboratory of Neurochemistry, Department of Biochemistry and Molecular Biology, Faculty of Medicine, University of Santiago de Compostela, A Coruña, Spain.; Barbosa-Gouveia S; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Paediatrics, University Hospital of Santiago de Compostela, A Coruña, Spain.; Martinez-Olmos MA; Division of Endocrinology and Nutrition, University Hospital of Santiago de Compostela, A Coruña, Spain; CIBER Physiopathology of Obesity and Nutrition (CIBERobn), Carlos III Health Institute, Madrid, Spain.; Hermida-Ameijeiras A; Department of Internal Medicine, University Hospital of Santiago de Compostela, A Coruña, Spain; UETeM-Molecular Pathology Group, Department of Medicine, IDIS-CIMUS, University of Santiago de Compostela, A Coruña, Spain.

Publisher: Elsevier España Country of Publication: Spain NLM ID: 0376377 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1578-8989 (Electronic) Linking ISSN: 00257753 NLM ISO Abbreviation: Med Clin (Barc) Subsets: MEDLINE

Barbosa-Gouveia S; Fundación Instituto Investigación Sanitaria de Santiago de Compostela (FIDIS), University of Santiago de Compostela (USC), 15782 Coruña, Spain.; National Reference Centre for Inherited Metabolic Diseases, CIBERER, MetabERN, 28029 Madrid, Spain.; Fernández-Crespo S; Department of Internal Medicine, University Hospital of El Bierzo, 24404 Ponferrada, Spain.; Lazaré-Iglesias H; Department of Pathology, University Clinical Hospital of Santiago de Compostela, 15706 Santiago de Compostela, Spain.; González-Quintela A; Fundación Instituto Investigación Sanitaria de Santiago de Compostela (FIDIS), University of Santiago de Compostela (USC), 15782 Coruña, Spain.; Vázquez-Agra N; Fundación Instituto Investigación Sanitaria de Santiago de Compostela (FIDIS), University of Santiago de Compostela (USC), 15782 Coruña, Spain.; Hermida-Ameijeiras Á; Fundación Instituto Investigación Sanitaria de Santiago de Compostela (FIDIS), University of Santiago de Compostela (USC), 15782 Coruña, Spain.; National Reference Centre for Inherited Metabolic Diseases, CIBERER, MetabERN, 28029 Madrid, Spain.; Rare Diseases Center, Minority Diseases Working Group from the Spanish Society of Internal Medicine (GTEM), University Clinical Hospital of Santiago de Compostela, 15706 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

Álvarez JV; Department of Forensic Sciences, Pathology, Gynecology and Obstetrics, Pediatrics, Neonatology Service, Health Research Institute of Santiago de Compostela (IDIS), Hospital Clínico Universitario de Santiago de Compostela, CIBERER, MetabERN, 15706 Santiago de Compostela, Spain.; Health Research Institute of Santiago de Compostela (IDIS), CIBERER, MetabERN, 15706 Santiago de Compostela, Spain.; Skeletal Dysplasia Lab Nemours Biomedical Research Nemours/Alfred I, duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE 19803, USA.; Bravo SB; Proteomic Platform, Health Research Institute of Santiago de Compostela (IDIS), Hospital ClínicoUniversitario de Santiago de Compostela, 15706 Santiago de Compostela, Spain.; Chantada-Vázquez MP; Proteomic Platform, Health Research Institute of Santiago de Compostela (IDIS), Hospital ClínicoUniversitario de Santiago de Compostela, 15706 Santiago de Compostela, Spain.; Barbosa-Gouveia S; Health Research Institute of Santiago de Compostela (IDIS), CIBERER, MetabERN, 15706 Santiago de Compostela, Spain.; Colón C; Department of Forensic Sciences, Pathology, Gynecology and Obstetrics, Pediatrics, Neonatology Service, Health Research Institute of Santiago de Compostela (IDIS), Hospital Clínico Universitario de Santiago de Compostela, CIBERER, MetabERN, 15706 Santiago de Compostela, Spain.; Health Research Institute of Santiago de Compostela (IDIS), CIBERER, MetabERN, 15706 Santiago de Compostela, Spain.; López-Suarez O; Department of Forensic Sciences, Pathology, Gynecology and Obstetrics, Pediatrics, Neonatology Service, Health Research Institute of Santiago de Compostela (IDIS), Hospital Clínico Universitario de Santiago de Compostela, CIBERER, MetabERN, 15706 Santiago de Compostela, Spain.; Health Research Institute of Santiago de Compostela (IDIS), CIBERER, MetabERN, 15706 Santiago de Compostela, Spain.; Tomatsu S; Skeletal Dysplasia Lab Nemours Biomedical Research Nemours/Alfred I, duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE 19803, USA.; Otero-Espinar FJ; Paraquasil Platform, Health Research Institute of Santiago de Compostela (IDIS), Hospital Clínico Universitario de Santiago de Compostela, 15706 Santiago de Compostela, Spain.; Department of Pharmacology, Pharmacy and Pharmaceutical Technology, School of Pharmacy, Campus Vida, University of Santiago de Compostela, 15872 Santiago de Compostela, Spain.; Couce ML; Department of Forensic Sciences, Pathology, Gynecology and Obstetrics, Pediatrics, Neonatology Service, Health Research Institute of Santiago de Compostela (IDIS), Hospital Clínico Universitario de Santiago de Compostela, CIBERER, MetabERN, 15706 Santiago de Compostela, Spain.; Health Research Institute of Santiago de Compostela (IDIS), CIBERER, 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

Chantada-Vázquez MDP; Proteomic Platform, Health Research Institute of Santiago de Compostela (IDIS), Hospital Clínico Universitario de Santiago de Compostela, 15706 Santiago de Compostela, Spain.; Bravo SB; Proteomic Platform, Health Research Institute of Santiago de Compostela (IDIS), Hospital Clínico Universitario de Santiago de Compostela, 15706 Santiago de Compostela, Spain.; Barbosa-Gouveia S; Department of Forensic Sciences, Pathology, Gynecology and Obstetrics, Pediatrics, Neonatology Service, Department of Pediatrics, Hospital Clínico Universitario de Santiago de Compostela, Health Research Institute of Santiago de Compostela (IDIS), CIBERER, MetabERN, 15706 Santiago de Compostela, Spain.; Alvarez JV; Department of Forensic Sciences, Pathology, Gynecology and Obstetrics, Pediatrics, Neonatology Service, Department of Pediatrics, Hospital Clínico Universitario de Santiago de Compostela, Health Research Institute of Santiago de Compostela (IDIS), CIBERER, MetabERN, 15706 Santiago de Compostela, Spain.; Couce ML; Department of Forensic Sciences, Pathology, Gynecology and Obstetrics, Pediatrics, Neonatology Service, Department of Pediatrics, Hospital Clínico Universitario de Santiago de Compostela, Health Research Institute of Santiago de Compostela (IDIS), CIBERER, 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

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

de Castro MJ; Diagnosis and Treatment of Congenital Metabolic Diseases Unit (UDyTEMC), Neonatology Division, Department of Pediatrics, Clinical University Hospital of Santiago de Compostela, IDIS-Health Research Institute of Santiago de Compostela, 15706 Santiago de Compostela, Spain.; Centro de Investigación Biomédica en Red (CIBER)-CIBER DE ENFERMEDADES RARAS (CIBERER),, Pabellón 11, 28029 Madrid, Spain.; MetabERN, Via Pozzuolo, 330, 33100 Udine, Italy.; Faculty of Medicine, University of Santiago de Compostela, 15706 Santiago de Compostela, Spain.; González-Vioque E; Diagnosis and Treatment of Congenital Metabolic Diseases Unit (UDyTEMC), Neonatology Division, Department of Pediatrics, Clinical University Hospital of Santiago de Compostela, IDIS-Health Research Institute of Santiago de Compostela, 15706 Santiago de Compostela, Spain.; Centro de Investigación Biomédica en Red (CIBER)-CIBER DE ENFERMEDADES RARAS (CIBERER),, Pabellón 11, 28029 Madrid, Spain.; MetabERN, Via Pozzuolo, 330, 33100 Udine, Italy.; Barbosa-Gouveia S; Diagnosis and Treatment of Congenital Metabolic Diseases Unit (UDyTEMC), Neonatology Division, Department of Pediatrics, Clinical University Hospital of Santiago de Compostela, IDIS-Health Research Institute of Santiago de Compostela, 15706 Santiago de Compostela, Spain.; Centro de Investigación Biomédica en Red (CIBER)-CIBER DE ENFERMEDADES RARAS (CIBERER),, Pabellón 11, 28029 Madrid, Spain.; Salguero E; Neonatology Department, Malaga Regional Hospital, Malaga Biomedical Research Institute-IBIMA, 29011 Malaga, Spain.; Rite S; Neonatology Unit, Miguel Servet University Hospital, 50009 Zaragoza, Spain.; López-Suárez O; Diagnosis and Treatment of Congenital Metabolic Diseases Unit (UDyTEMC), Neonatology Division, Department of Pediatrics, Clinical University Hospital of Santiago de Compostela, IDIS-Health Research Institute of Santiago de Compostela, 15706 Santiago de Compostela, Spain.; Faculty of Medicine, University of Santiago de Compostela, 15706 Santiago de Compostela, Spain.; Pérez-Muñuzuri A; Diagnosis and Treatment of Congenital Metabolic Diseases Unit (UDyTEMC), Neonatology Division, Department of Pediatrics, Clinical University Hospital of Santiago de Compostela, IDIS-Health Research Institute of Santiago de Compostela, 15706 Santiago de Compostela, Spain.; Faculty of Medicine, University of Santiago de Compostela, 15706 Santiago de Compostela, Spain.; Couce ML; Diagnosis and Treatment of Congenital Metabolic Diseases Unit (UDyTEMC), Neonatology Division, Department of Pediatrics, Clinical University Hospital of Santiago de Compostela, IDIS-Health Research Institute of Santiago de Compostela, 15706 Santiago de Compostela, Spain.; Centro de Investigación Biomédica en Red (CIBER)-CIBER DE ENFERMEDADES RARAS (CIBERER),, Pabellón 11, 28029 Madrid, Spain.; MetabERN, Via Pozzuolo, 330, 33100 Udine, Italy.; Faculty of Medicine, University of Santiago de Compostela, 15706 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

Carneiro F; Neurology Department, Hospital Garcia de Orta, Almada, Portugal.; Duarte J; Neuroradiology Department, Hospital Garcia de Orta, Almada, Portugal.; Laranjeira F; Biochemical Genetics Unit, Centro de Genética Médica Doutor Jacinto Magalhães, Porto, Portugal.; Barbosa-Gouveia S; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Hospital Clínico Universitario de Santiago de Compostela, Instituto de Investigación Sanitaria de Santiago de Compostela, Centro de Investigación Biomédica en Red de Enfermedades Raras, European Reference Network for Rare Hereditary Metabolic Disorders, Santiago de Compostela, Spain.; Couce ML; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Hospital Clínico Universitario de Santiago de Compostela, Instituto de Investigación Sanitaria de Santiago de Compostela, Centro de Investigación Biomédica en Red de Enfermedades Raras, European Reference Network for Rare Hereditary Metabolic Disorders, Santiago de Compostela, Spain.; Fonseca MJ; Child Development Centre Torrado da Silva, Hospital Garcia de Orta, Almada, Portugal.

Publisher: Frontiers Media SA Country of Publication: Switzerland NLM ID: 101615492 Publication Model: eCollection Cited Medium: Print ISSN: 2296-2360 (Print) Linking ISSN: 22962360 NLM ISO Abbreviation: Front Pediatr Subsets: PubMed not MEDLINE

Barbosa-Gouveia S; Diagnosis and Treatment of Congenital Metabolic Diseases Unit (UDyTEMC), Department of Pediatrics, Clinical University Hospital of Santiago de Compostela, 15706 Santiago de Compostela, Spain. sofiabsg@gmail.com.; Faculty of Medicine, University of Santiago de Compostela, 15706 Santiago de Compostela, Spain. sofiabsg@gmail.com.; IDIS-Health Research Institute of Santiago de Compostela, 15706 Santiago de Compostela, Spain. sofiabsg@gmail.com.; González-Vioque E; Diagnosis and Treatment of Congenital Metabolic Diseases Unit (UDyTEMC), Department of Pediatrics, Clinical University Hospital of Santiago de Compostela, 15706 Santiago de Compostela, Spain.; IDIS-Health Research Institute of Santiago de Compostela, 15706 Santiago de Compostela, Spain.; Borges F; Diagnosis and Treatment of Congenital Metabolic Diseases Unit (UDyTEMC), Department of Pediatrics, Clinical University Hospital of Santiago de Compostela, 15706 Santiago de Compostela, Spain.; Gutiérrez-Solana L; Unit of Child Neurology, Department of Pediatrics, Hospital Infantil Universitario Niño Jesús de Madrid, 28009 Madrid, Spain.; Wintjes L; Department of Paediatrics, Radboud Centre for Mitochondrial Medicine, Radboud University Medical Centre, 6525 GA Nijmegen, The Netherlands.; Kappen A; Department of Paediatrics, Radboud Centre for Mitochondrial Medicine, Radboud University Medical Centre, 6525 GA Nijmegen, The Netherlands.; van den Heuvel L; Department of Paediatrics, Radboud Centre for Mitochondrial Medicine, Radboud University Medical Centre, 6525 GA Nijmegen, The Netherlands.; Leis R; IDIS-Health Research Institute of Santiago de Compostela, 15706 Santiago de Compostela, Spain.; Unit of Pediatric Gastroenterology and Nutrition Department of Pediatrics, Hospital Clínico Universitario de Santiago de Compostela, 15706 Santiago de Compostela, Spain.; CIBER Fisiopatología Obesidad y Nutrición (CIBEROBN), Instituto Salud Carlos III, 28029 Madrid, Spain.; Rodenburg R; Department of Paediatrics, Radboud Centre for Mitochondrial Medicine, Radboud University Medical Centre, 6525 GA Nijmegen, The Netherlands.; Couce ML; Diagnosis and Treatment of Congenital Metabolic Diseases Unit (UDyTEMC), Department of Pediatrics, Clinical University Hospital of Santiago de Compostela, 15706 Santiago de Compostela, Spain.; Faculty of Medicine, University of Santiago de Compostela, 15706 Santiago de Compostela, Spain.; IDIS-Health Research Institute of Santiago de Compostela, 15706 Santiago de Compostela, Spain.; CIBERER, Pabellón 11, 28029 Madrid, 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