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Cystathionine ß-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.
Kozich, Viktor; Sokolová, Jitka; Morris, Andrew A M; Pavlíková, Markéta; Gleich, Florian; Kölker, Stefan; Krijt, Jakub; Dionisi-Vici, Carlo; Baumgartner, Matthias R; Blom, Henk J; Huemer, Martina.
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  • Kozich V; Department of Pediatrics and Inherited Metabolic Disorders, Charles University-First Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic.
  • Sokolová J; Department of Pediatrics and Inherited Metabolic Disorders, Charles University-First Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic.
  • Morris AAM; Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Trust, Manchester, UK.
  • Pavlíková M; Department of Probability and Mathematical Statistics, Charles University-Faculty of Mathematics and Physics, Prague, Czech Republic.
  • Gleich F; Division of Neuropaediatrics and Metabolic Medicine, Centre for Paediatric and Adolescent Medicine, University Hospital, Heidelberg, Germany.
  • Kölker S; Division of Neuropaediatrics and Metabolic Medicine, Centre for Paediatric and Adolescent Medicine, University Hospital, Heidelberg, Germany.
  • Krijt J; Department of Pediatrics and Inherited Metabolic Disorders, Charles University-First Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic.
  • Dionisi-Vici C; Division of Metabolism, Bambino Gesù Children's Research Hospital, IRCCS, Rome, Italy.
  • Baumgartner MR; Division of Metabolism and Children's Research Center, University Children's Hospital, Zurich, Switzerland.
  • Blom HJ; University of Zürich, Zürich, Switzerland.
  • Huemer M; Department of Clinical Genetics, Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Rotterdam, Netherlands.
J Inherit Metab Dis ; 44(3): 677-692, 2021 05.
Article en En | MEDLINE | ID: mdl-33295057
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Piridoxina / Cistationina betasintasa / Homocistinuria Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: J Inherit Metab Dis Año: 2021 Tipo del documento: Article País de afiliación: República Checa Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Piridoxina / Cistationina betasintasa / Homocistinuria Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: J Inherit Metab Dis Año: 2021 Tipo del documento: Article País de afiliación: República Checa Pais de publicación: Estados Unidos