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Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study.
van Rijt, Willemijn J; Ferdinandusse, Sacha; Giannopoulos, Panagiotis; Ruiter, Jos P N; de Boer, Lonneke; Bosch, Annet M; Huidekoper, Hidde H; Rubio-Gozalbo, M Estela; Visser, Gepke; Williams, Monique; Wanders, Ronald J A; Derks, Terry G J.
Afiliação
  • van Rijt WJ; Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
  • Ferdinandusse S; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.
  • Giannopoulos P; Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
  • Ruiter JPN; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.
  • de Boer L; Department of Pediatrics, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Bosch AM; Department of Pediatrics, Division of Metabolic Disorders, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.
  • Huidekoper HH; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Rotterdam, the Netherlands.
  • Rubio-Gozalbo ME; Department of Pediatrics and Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.
  • Visser G; Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, the Netherlands.
  • Williams M; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus Medical Center, Rotterdam, the Netherlands.
  • Wanders RJA; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.
  • Derks TGJ; Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
J Inherit Metab Dis ; 42(5): 878-889, 2019 09.
Article em En | MEDLINE | ID: mdl-31268564

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Índice de Gravidade de Doença / Carnitina / Deficiência Múltipla de Acil Coenzima A Desidrogenase / Ácidos Graxos Idioma: En Ano de publicação: 2019 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Índice de Gravidade de Doença / Carnitina / Deficiência Múltipla de Acil Coenzima A Desidrogenase / Ácidos Graxos Idioma: En Ano de publicação: 2019 Tipo de documento: Article