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Exploring genotype-phenotype correlations in glutaric aciduria type 1.
Schuurmans, Imke M E; Dimitrov, Bianca; Schröter, Julian; Ribes, Antonia; de la Fuente, Rubén Pérez; Zamora, Berta; van Karnebeek, Clara D M; Kölker, Stefan; Garanto, Alejandro.
Afiliación
  • Schuurmans IME; Department of Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Dimitrov B; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Schröter J; Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Ribes A; Department of Pediatrics and Human Genetics, Emma Center for Personalized Medicine, Amsterdam University Medical Centers, Amsterdam, The Netherlands.
  • de la Fuente RP; Division of Child Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Zamora B; Division of Child Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • van Karnebeek CDM; Division of Pediatric Epileptology, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Kölker S; Section of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, Hospital Clinic de Barcelona, IDIBAPS-CIBERER, Barcelona, Spain.
  • Garanto A; Genetics Department, 12 de Octubre University Hospital, Madrid, Spain.
J Inherit Metab Dis ; 46(3): 371-390, 2023 05.
Article en En | MEDLINE | ID: mdl-37020324
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Encefalopatías Metabólicas / Errores Innatos del Metabolismo de los Aminoácidos Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: J Inherit Metab Dis Año: 2023 Tipo del documento: Article País de afiliación: Países Bajos
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Encefalopatías Metabólicas / Errores Innatos del Metabolismo de los Aminoácidos Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: J Inherit Metab Dis Año: 2023 Tipo del documento: Article País de afiliación: Países Bajos