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Adult GAMT deficiency: A literature review and report of two siblings.
Modi, Bhavi P; Khan, Haq Nawaz; van der Lee, Robin; Wasim, Muhammad; Haaxma, Charlotte A; Richmond, Phillip A; Drögemöller, Britt; Shah, Suleman; Salomons, Gajja; van der Kloet, Frans M; Vaz, Fred M; van der Crabben, Saskia N; Ross, Colin J; Wasserman, Wyeth W; van Karnebeek, Clara D M; Awan, Fazli Rabbi.
Afiliação
  • Modi BP; Centre for Molecular Medicine and Therapeutics, Dept. of Medical Genetics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada.
  • Khan HN; Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.
  • van der Lee R; Pakistan Institute of Engineering and Applied Sciences (PIEAS), Islamabad, Pakistan.
  • Wasim M; Centre for Molecular Medicine and Therapeutics, Dept. of Medical Genetics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada.
  • Haaxma CA; Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.
  • Richmond PA; Pakistan Institute of Engineering and Applied Sciences (PIEAS), Islamabad, Pakistan.
  • Drögemöller B; Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Centre, Nijmegen, the Netherlands.
  • Shah S; Centre for Molecular Medicine and Therapeutics, Dept. of Medical Genetics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada.
  • Salomons G; Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, BC, Canada.
  • van der Kloet FM; Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.
  • Vaz FM; Laboratory for Genetic Metabolic Diseases, Amsterdam University Medical Centres, Amsterdam, the Netherlands.
  • van der Crabben SN; Laboratory for Genetic Metabolic Diseases, Amsterdam University Medical Centres, Amsterdam, the Netherlands.
  • Ross CJ; Swammerdam Institute for Life Sciences, University of Amsterdam, the Netherlands.
  • Wasserman WW; Laboratory for Genetic Metabolic Diseases, Amsterdam University Medical Centres, Amsterdam, the Netherlands.
  • van Karnebeek CDM; Dept. of Clinical Chemistry and Pediatrics, Amsterdam Gastroenterology Endocrinology Metabolism, University of Amsterdam, the Netherlands.
  • Awan FR; Department of Medical Genetics, Amsterdam University Medical Centres, Amsterdam, the Netherlands.
Mol Genet Metab Rep ; 27: 100761, 2021 Jun.
Article em En | MEDLINE | ID: mdl-33996490
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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Ano de publicação: 2021 Tipo de documento: Article