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A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy.
Rumping, Lynne; Pouwels, Petra J W; Wolf, Nicole I; Rehmann, Holger; Wamelink, Mirjam M C; Waisfisz, Quinten; Jans, Judith J M; Prinsen, Hubertus C M T; van de Kamp, Jiddeke M; van Hasselt, Peter M.
Afiliação
  • Rumping L; Department of Human Genetics Amsterdam UMC Amsterdam the Netherlands.
  • Pouwels PJW; Department of Radiology and Nuclear Medicine and Amsterdam Neuroscience Amsterdam UMC Amsterdam the Netherlands.
  • Wolf NI; Department of Child Neurology, Amsterdam Leukodystrophy Center Emma Children's Hospital, Amsterdam UMC Amsterdam the Netherlands.
  • Rehmann H; Amsterdam Neuroscience, Cellular and Molecular Mechanisms Vrije Universiteit Amsterdam Amsterdam the Netherlands.
  • Wamelink MMC; Department of Energy and Biotechnology Flensburg University of Applied Sciences Flensburg Germany.
  • Waisfisz Q; Department of Clinical Chemistry, Metabolic Unit, Amsterdam Gastroenterology Endocrinology Metabolism Amsterdam UMC location Vrije Universiteit Amsterdam the Netherlands.
  • Jans JJM; Department of Human Genetics Amsterdam UMC Amsterdam the Netherlands.
  • Prinsen HCMT; Department of Genetics, Section Metabolic Diagnostics UMC Utrecht Utrecht the Netherlands.
  • van de Kamp JM; Department of Genetics, Section Metabolic Diagnostics UMC Utrecht Utrecht the Netherlands.
  • van Hasselt PM; Department of Human Genetics Amsterdam UMC Amsterdam the Netherlands.
JIMD Rep ; 64(3): 217-222, 2023 May.
Article em En | MEDLINE | ID: mdl-37151363
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: JIMD Rep Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: JIMD Rep Ano de publicação: 2023 Tipo de documento: Article