학술논문
'학술논문'
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1~10
Academic Journal
Keller, R; Chrastina, P; Pavlikova, M; Gouveia, S; Ribes, A; Kolker, S; Blom, HJ; Baumgartner, MR; Bartl, J; Dionisi-Vici, C; Gleich, F; Morris, AA; Kozich, V; Huemer, M; Baric, I; Ben-Omran, T; Blasco-Alonso, J; Delgado, MA; Carducci, C; Cassanello, M; Cerone, R; Couce, ML; Crushell, E; Pecellin, CD; Dulin, E; Espada, M; Ferino, G; Fingerhut, R; Jimenez, IG; Gallego, IG; Gonzalez-Irazabal, Y; Gramer, G; Fita, MJJ; Karg, E; Klein, J; Konstantopoulou, V; la Marca, G; Teles, EL; Leuzzi, V; Lilliu, F; Lopez, RM; Lund, AM; Mayne, P; Meavilla, S; Moat, SJ; Okun, JG; Pasquini, E; Pedron-Giner, CC; Racz, GZ; Gomez, MAR; Vilarinho, L; Yahyaoui, R; Tansek, MZ; Zetterstrom, RH; Zeyda, M
Journal of inherited metabolic disease. 42(1):128-139
Academic Journal
Academic Journal
Díez López I; Departamento de Pediatría, UPV-EHU, Servicio de Pediatría. HU Araba, OSI Araba, BIOARABA, Vitoria, Spain.; Cernada M; Servicio de Neonatología, Hospital Universitario y Politécnico La Fe, Grupo de Investigación en Perinatología, Instituto de Investigación Sanitaria La Fe, Valencia, Spain.; Galán L; Servicio de Pediatria, Hospital San Pedro de Alcántara, Cáceres, Spain.; Boix H; Unidad de Cuidados Intensivos Neonatales, Hospital Quironsalud, Barcelona, Spain.; Ibañez L; Servicio de Endocrinología, Hospital Sant Joan de Déu, Universidad de Barcelona, CIBERDEM, Instituto de Salud Carlos III, Madrid, Spain. Electronic address: lourdes.ibanez@sjd.es.; Couce ML; Servicio de Neonatología, Hospital Clínico Universitario de Santiago, IDIS, RICORS-SAMID, Universidad de Santiago de Compostela, Santiago de Compostela, A Coruña, Spain. Electronic address: Maria.luz.couce.pico@sergas.es.
Publisher: Elsevier Country of Publication: Spain NLM ID: 101765626 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2341-2879 (Electronic) Linking ISSN: 23412879 NLM ISO Abbreviation: An Pediatr (Engl Ed) Subsets: MEDLINE
Academic Journal
Sevivas C; Neonatology, BCNatal, Barcelona Center for Maternal Fetal and Neonatal Medicine, Hospital Sant Joan de Déu and Hospital Clinic, University of Barcelona, Barcelona, Spain. catarinaalexandra.sevivas@sjd.es.; Neonatology, Clinical University Hospital of Santiago de Compostela, Health Research Institute of Santiago de Compostela (IDIS), RICORS, Santiago de Compostela, Spain. catarinaalexandra.sevivas@sjd.es.; Ibáñez R; Neonatology, BCNatal, Barcelona Center for Maternal Fetal and Neonatal Medicine, Hospital Sant Joan de Déu and Hospital Clinic, University of Barcelona, Barcelona, Spain.; Fontalvo M; Neonatology, BCNatal, Barcelona Center for Maternal Fetal and Neonatal Medicine, Hospital Sant Joan de Déu and Hospital Clinic, University of Barcelona, Barcelona, Spain.; Couce ML; Neonatology, Clinical University Hospital of Santiago de Compostela, CIBERER, Health Research Institute of Santiago de Compostela (IDIS), RICORS, MetabERN: European Reference Network for Rare Hereditary Metabolic Disorders, Santiago de Compostela, Spain.; Camprubí-Camprubí M; Neonatology, BCNatal, Barcelona Center for Maternal Fetal and Neonatal Medicine, Hospital Sant Joan de Déu and Hospital Clinic, University of Barcelona, Barcelona, Spain.; Cardiovascular Research Group, Sant Joan de Déu Research Institute, Barcelona, Spain.
Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 8501884 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5543 (Electronic) Linking ISSN: 07438346 NLM ISO Abbreviation: J Perinatol Subsets: MEDLINE
Academic Journal
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
Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease.
Academic Journal
de Castro MJ; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Neonatology, Santiago de Compostela University Clinical Hospital, Santiago de Compostela, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), European Reference Network for Hereditary Metabolic Disorders (MetabERN), IDIS-Health Research Institute of Santiago de Compostela, Santiago de Compostela University Clinical Hospital, Santiago de Compostela, Spain.; Jones SA; Willink Biochemical Genetics Unit, St Mary's Hospital, Manchester University Foundation Trust, University of Manchester, Manchester, ZIP M13 9WL, UK. simonallanjones@gmail.com.; School of Biological Sciences, Facutly of Biology, Medicine and Health, The University of Manchester, Manchester, UK. simonallanjones@gmail.com.; de Las Heras J; Division of Pediatric Metabolism at Cruces University Hospital, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), European Reference Network for Hereditary Metabolic Disorders (MetabERN), Biocruces-Bizkaia Health Research Institute, University of the Basque Country (UPV/EHU), Barakaldo, Spain.; Sánchez-Pintos P; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Neonatology, Santiago de Compostela University Clinical Hospital, Santiago de Compostela, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), European Reference Network for Hereditary Metabolic Disorders (MetabERN), IDIS-Health Research Institute of Santiago de Compostela, Santiago de Compostela University Clinical Hospital, Santiago de Compostela, Spain.; Couce ML; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Neonatology, Santiago de Compostela University Clinical Hospital, Santiago de Compostela, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), European Reference Network for Hereditary Metabolic Disorders (MetabERN), IDIS-Health Research Institute of Santiago de Compostela, Santiago de Compostela University Clinical Hospital, Santiago de Compostela, Spain.; Colón C; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Neonatology, Santiago de Compostela University Clinical Hospital, Santiago de Compostela, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), European Reference Network for Hereditary Metabolic Disorders (MetabERN), IDIS-Health Research Institute of Santiago de Compostela, Santiago de Compostela University Clinical Hospital, Santiago de Compostela, Spain.; Crujeiras P; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Neonatology, Santiago de Compostela University Clinical Hospital, Santiago de Compostela, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), European Reference Network for Hereditary Metabolic Disorders (MetabERN), IDIS-Health Research Institute of Santiago de Compostela, Santiago de Compostela University Clinical Hospital, Santiago de Compostela, Spain.; Unceta M; Division of Pediatric Metabolism at Cruces University Hospital, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), European Reference Network for Hereditary Metabolic Disorders (MetabERN), Biocruces-Bizkaia Health Research Institute, University of the Basque Country (UPV/EHU), Barakaldo, Spain.; Church H; Willink Biochemical Genetics Unit, St Mary's Hospital, Manchester University Foundation Trust, University of Manchester, Manchester, ZIP M13 9WL, UK.; Brammeier K; Willink Biochemical Genetics Unit, St Mary's Hospital, Manchester University Foundation Trust, University of Manchester, Manchester, ZIP M13 9WL, UK.; Yee WH; Willink Biochemical Genetics Unit, St Mary's Hospital, Manchester University Foundation Trust, University of Manchester, Manchester, ZIP M13 9WL, UK.; Cooper J; Willink Biochemical Genetics Unit, St Mary's Hospital, Manchester University Foundation Trust, University of Manchester, Manchester, ZIP M13 9WL, UK.; López de Frutos L; Fundación Española para el Estudio y Terapéutica de la Enfermedad de Gaucher y otras lisosomales (FEETEG), Zaragoza, Spain.; Serrano-Gonzalo I; Fundación Española para el Estudio y Terapéutica de la Enfermedad de Gaucher y otras lisosomales (FEETEG), Zaragoza, Spain.; Camba MJ; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Neonatology, Santiago de Compostela University Clinical Hospital, Santiago de Compostela, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), European Reference Network for Hereditary Metabolic Disorders (MetabERN), IDIS-Health Research Institute of Santiago de Compostela, Santiago de Compostela University Clinical Hospital, Santiago de Compostela, Spain.; White FJ; Willink Biochemical Genetics Unit, St Mary's Hospital, Manchester University Foundation Trust, University of Manchester, Manchester, ZIP M13 9WL, UK.; Holmes V; Willink Biochemical Genetics Unit, St Mary's Hospital, Manchester University Foundation Trust, University of Manchester, Manchester, ZIP M13 9WL, UK.; Ghosh A; Willink Biochemical Genetics Unit, St Mary's Hospital, Manchester University Foundation Trust, University of Manchester, Manchester, ZIP M13 9WL, UK.; School of Biological Sciences, Facutly of Biology, Medicine and Health, The University of Manchester, Manchester, UK.
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
Academic Journal
Heard, JM; Bellettato, C; Lingen, C; Scarpa, M; Debray, FG; Nassogne, MC; van Coster, R; De Meirleir, L; Eyskens, F; Morava, E; Baric, I; Kozich, V; Lund, AM; Germain, D; Belmatoug, N; Guffon, N; Labrune, P; Gouya, L; De Lonlay, P; Schiff, M; Dobbelaere, D; Chabrol, B; Ploeckinger, U; Das, AM; Spiekerkoetter, U; Rutsch, F; Mohnike, K; Hahn, A; Kolker, S; Ullrich, K; Hennermann, J; Balogh, I; Bembi, B; Donati, MA; Gasperini, S; Parenti, G; Salviati, A; Vici, CD; Di Rocco, M; Cefalo, G; Burlina, A; Ceccarini, G; Federico, A; Van der Ploeg, A; Rubio-Gozalbo, ME; Van Spronsen, F; Visser, G; Bosch, A; Tangeraas, T; Sanderberg, S; Kiec-Wilk, B; Gaspar, AMSM; Martins, E; Silva, EMFR; Matos, LMDFD; Azevedo, O; Tansek, MZ; Couce-Pico, ML; Cazorla, AG; Azuara, LAE; Del Toro-Riera, M; Silva, MTG; Lajic, S; Darin, N; Deegan, P; Vijay, S; Chronopolou, E; Jones, S; Chakrapani, A; Hiwot, T
Orphanet journal of rare diseases. 14(1):119
Academic Journal
Tomás Oviedo, Miriela; García Couce, Jomarien; Fuentes Estévez, Gastón; Amirall La Serna, Amisel; Cruz Ricondo, Luis Javier
Academic Journal
Castells Vilella L; From the Department of Pediatrics, Hospital Universitari General de Catalunya, Grupo Quirónsalud, Sant Cugat del Vallès, Barcelona, Spain (Castells Vilella, Muñiz Llama).; Sánchez-Pintos P; the Diagnosis and Treatment Unit of Congenital Metabolic Diseases, Department of Pediatrics, University Clinical Hospital of Santiago de Compostela, Santiago de Compostela, Spain (Sánchez-Pintos, Couce).; IDIS-Health Research Institute of Santiago de Compostela, Santiago de Compostela, Spain (Sánchez-Pintos, Couce).; CIBERER, Instituto Salud Carlos III, Madrid, Spain (Sánchez-Pintos, Couce).; MetabERN, Udine, Italy (Sánchez-Pintos, Couce).; Muñiz Llama JF; From the Department of Pediatrics, Hospital Universitari General de Catalunya, Grupo Quirónsalud, Sant Cugat del Vallès, Barcelona, Spain (Castells Vilella, Muñiz Llama).; Gámez Martínez M; Quantitative Methods and Socioeconomic Development, Institute for Regional Development, University of Castilla-La Mancha (Gámez Martínez).; Couce ML; the Diagnosis and Treatment Unit of Congenital Metabolic Diseases, Department of Pediatrics, University Clinical Hospital of Santiago de Compostela, Santiago de Compostela, Spain (Sánchez-Pintos, Couce).; IDIS-Health Research Institute of Santiago de Compostela, Santiago de Compostela, Spain (Sánchez-Pintos, Couce).; CIBERER, Instituto Salud Carlos III, Madrid, Spain (Sánchez-Pintos, Couce).; MetabERN, Udine, Italy (Sánchez-Pintos, Couce).; Antón J; Pediatric Rheumatology Division, Hospital Sant Joan de Déu, Barcelona, Spain (Antón).; Immune Deficiency Dysfunction Diseases in Pediatrics (GEMDIP), Institut de Recerca Sant Joan de Déu, Barcelona, Spain (Antón).; the Department of Surgery and Surgical Specializations at the Facultat de Medicina i Ciències de la Salut, University of Barcelona, Barcelona, Spain (Antón).
Publisher: College of American Pathologists Country of Publication: United States NLM ID: 7607091 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1543-2165 (Electronic) Linking ISSN: 00039985 NLM ISO Abbreviation: Arch Pathol Lab Med Subsets: MEDLINE
Academic Journal
Rodríguez-Pombo L; Departamento de Farmacología, Farmacia y Tecnología Farmacéutica, I+D Farma (GI-1645), Facultad de Farmacia, Materials Institute iMATUS and Health Research Institute of Santiago de Compostela (IDIS), Universidade de Santiago de Compostela, 15782 Santiago de Compostela, Spain.; de Castro-López MJ; Servicio de Neonatología, Unidad de Diagnóstico y Tratamiento de Enfermedades Metabólicas Congénitas, Health Research Institute of Santiago de Compostela (IDIS), Hospital Clínico Universitario de Santiago de Compostela, Universidad de Santiago de Compostela, IDIS, RICORS, CIBERER, MetabERN, Spain.; Sánchez-Pintos P; Servicio de Neonatología, Unidad de Diagnóstico y Tratamiento de Enfermedades Metabólicas Congénitas, Health Research Institute of Santiago de Compostela (IDIS), Hospital Clínico Universitario de Santiago de Compostela, Universidad de Santiago de Compostela, IDIS, RICORS, CIBERER, MetabERN, Spain.; Giraldez-Montero JM; Pharmacy Department, Xerencia de Xestión Integrada de Santiago de Compostela, SERGAS, Travesía Choupana s/n, Santiago de Compostela 15706, Spain.; Januskaite P; Department of Pharmaceutics, UCL School of Pharmacy, University College London, 29-39 Brunswick Square, London WC1N 1AX, UK.; Duran-Piñeiro G; Pharmacy Department, Xerencia de Xestión Integrada de Santiago de Compostela, SERGAS, Travesía Choupana s/n, Santiago de Compostela 15706, Spain.; Dolores Bóveda M; Servicio de Neonatología, Unidad de Diagnóstico y Tratamiento de Enfermedades Metabólicas Congénitas, Health Research Institute of Santiago de Compostela (IDIS), Hospital Clínico Universitario de Santiago de Compostela, Universidad de Santiago de Compostela, IDIS, RICORS, CIBERER, MetabERN, Spain.; Alvarez-Lorenzo C; Departamento de Farmacología, Farmacia y Tecnología Farmacéutica, I+D Farma (GI-1645), Facultad de Farmacia, Materials Institute iMATUS and Health Research Institute of Santiago de Compostela (IDIS), Universidade de Santiago de Compostela, 15782 Santiago de Compostela, Spain.; Basit AW; Department of Pharmaceutics, UCL School of Pharmacy, University College London, 29-39 Brunswick Square, London WC1N 1AX, UK; FABRX Ltd., Henwood House, Henwood, Ashford, Kent TN24 8DH, UK; FABRX Artificial Intelligence, Carretera de Escairón, 14, Currelos (O Saviñao), CP 27543, Spain.; Goyanes A; Departamento de Farmacología, Farmacia y Tecnología Farmacéutica, I+D Farma (GI-1645), Facultad de Farmacia, Materials Institute iMATUS and Health Research Institute of Santiago de Compostela (IDIS), Universidade de Santiago de Compostela, 15782 Santiago de Compostela, Spain; Department of Pharmaceutics, UCL School of Pharmacy, University College London, 29-39 Brunswick Square, London WC1N 1AX, UK; FABRX Ltd., Henwood House, Henwood, Ashford, Kent TN24 8DH, UK; FABRX Artificial Intelligence, Carretera de Escairón, 14, Currelos (O Saviñao), CP 27543, Spain. Electronic address: a.goyanes@fabrx.co.uk.; Couce ML; Servicio de Neonatología, Unidad de Diagnóstico y Tratamiento de Enfermedades Metabólicas Congénitas, Health Research Institute of Santiago de Compostela (IDIS), Hospital Clínico Universitario de Santiago de Compostela, Universidad de Santiago de Compostela, IDIS, RICORS, CIBERER, MetabERN, Spain. Electronic address: maria.luz.couce.pico@sergas.es.
Publisher: Elsevier/North-Holland Biomedical Press Country of Publication: Netherlands NLM ID: 7804127 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-3476 (Electronic) Linking ISSN: 03785173 NLM ISO Abbreviation: Int J Pharm Subsets: MEDLINE
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