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Understanding acute metabolic decompensation in propionic and methylmalonic acidemias: a deep metabolic phenotyping approach.
Haijes, H A; Jans, J J M; van der Ham, M; van Hasselt, P M; Verhoeven-Duif, N M.
Afiliación
  • Haijes HA; Section Metabolic Diagnostics, Department of Genetics, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht University, Lundlaan 6, 3584, EA, Utrecht, The Netherlands. h.a.siepel-3@umcutrecht.nl.
  • Jans JJM; Section Metabolic Diseases, Department of Child Health, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht University, Lundlaan 6, 3584, EA, Utrecht, The Netherlands. h.a.siepel-3@umcutrecht.nl.
  • van der Ham M; Section Metabolic Diagnostics, Department of Genetics, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht University, Lundlaan 6, 3584, EA, Utrecht, The Netherlands.
  • van Hasselt PM; Section Metabolic Diagnostics, Department of Genetics, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht University, Lundlaan 6, 3584, EA, Utrecht, The Netherlands.
  • Verhoeven-Duif NM; Section Metabolic Diseases, Department of Child Health, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht University, Lundlaan 6, 3584, EA, Utrecht, The Netherlands.
Orphanet J Rare Dis ; 15(1): 68, 2020 03 06.
Article en En | MEDLINE | ID: mdl-32143654

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Fenómenos Bioquímicos / Acidemia Propiónica / Errores Innatos del Metabolismo de los Aminoácidos Tipo de estudio: Observational_studies Límite: Humans Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2020 Tipo del documento: Article País de afiliación: Países Bajos

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Fenómenos Bioquímicos / Acidemia Propiónica / Errores Innatos del Metabolismo de los Aminoácidos Tipo de estudio: Observational_studies Límite: Humans Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2020 Tipo del documento: Article País de afiliación: Países Bajos