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Galactose epimerase deficiency: lessons from the GalNet registry.
Derks, Britt; Demirbas, Didem; Arantes, Rodrigo R; Banford, Samantha; Burlina, Alberto B; Cabrera, Analía; Chiesa, Ana; Couce, M Luz; Dionisi-Vici, Carlo; Gautschi, Matthias; Grünewald, Stephanie; Morava, Eva; Möslinger, Dorothea; Scholl-Bürgi, Sabine; Skouma, Anastasia; Stepien, Karolina M; Timson, David J; Berry, Gerard T; Rubio-Gozalbo, M Estela.
Afiliación
  • Derks B; Department of Pediatrics and Clinical Genetics, Maastricht University Medical Centre+, P. Debyelaan 25, P.O. Box 5800, 6229 HX, Maastricht, The Netherlands.
  • Demirbas D; GROW, Maastricht University, Maastricht, The Netherlands.
  • Arantes RR; MetabERN: European Reference Network for Hereditary Metabolic Disorders, Udine, Italy.
  • Banford S; UMD: United for Metabolic Diseases Member, Amsterdam, The Netherlands.
  • Burlina AB; Division of Genetics and Genomics, Harvard Medical School, Boston Children's Hospital, 3 Blackfan Circle, Center for Life Science Building, Suite 14070, Boston, MA, 02115, USA.
  • Cabrera A; Special Service of Medical Genetics, Hospital das Clínicas da Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
  • Chiesa A; South Eastern Health and Social Care Trust, Downpatrick, BT30 6RL, UK.
  • Couce ML; MetabERN: European Reference Network for Hereditary Metabolic Disorders, Udine, Italy.
  • Dionisi-Vici C; Division of Inherited Metabolic Diseases, University Hospital, Via Orus 2/B, 35128, Padua, Italy.
  • Gautschi M; Nutrition Department, Hospital de Niños V.J. Vilela, Sante Fe, Rosario, Argentina.
  • Grünewald S; Department of Endocrinology, Hospital de Niños Ricardo Gutièrrez, Buenos Aires, Argentina.
  • Morava E; MetabERN: European Reference Network for Hereditary Metabolic Disorders, Udine, Italy.
  • Möslinger D; Metabolic Unit, IDIS, Department of Neonatology, University Clinical Hospital of Santiago de Compostela. Calle Choupana, s/n, 15706, Santiago de Compostela, Spain.
  • Scholl-Bürgi S; MetabERN: European Reference Network for Hereditary Metabolic Disorders, Udine, Italy.
  • Skouma A; Division of Metabolism, Bambino Gesu Children's Research Hospital IRCCS, Piazza S Onofrio 4, 00165, Roma, Italy.
  • Stepien KM; Division of Paediatric Endocrinology and Metabolism, Department of Paediatrics, University Hospital Bern, Inselspital, Freiburgstrasse 15, CH-3010, Bern, Switzerland.
  • Timson DJ; Metabolic Medicine Department, NIHR Biomedical Research Center (BRC), Institute for Child Health, Great Ormond Street Hospital, University College London, London, UK.
  • Berry GT; Department of Clinical Genomics and Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
  • Rubio-Gozalbo ME; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Waehringer Guertel 18-20, 1090, Vienna, Austria.
Orphanet J Rare Dis ; 17(1): 331, 2022 09 02.
Article en En | MEDLINE | ID: mdl-36056436
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Galactosemias Tipo de estudio: Observational_studies Límite: Humans Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2022 Tipo del documento: Article País de afiliación: Países Bajos
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Galactosemias Tipo de estudio: Observational_studies Límite: Humans Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2022 Tipo del documento: Article País de afiliación: Países Bajos