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Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature.
Hedberg-Oldfors, Carola; Glamuzina, Emma; Ruygrok, Peter; Anderson, Lisa J; Elliott, Perry; Watkinson, Oliver; Occleshaw, Chris; Abernathy, Malcolm; Turner, Clinton; Kingston, Nicola; Murphy, Elaine; Oldfors, Anders.
Afiliação
  • Hedberg-Oldfors C; Department of Pathology and Genetics, University of Gothenburg, Gothenburg, Sweden.
  • Glamuzina E; National Metabolic Service, Starship Children's Hospital, Auckland, New Zealand.
  • Ruygrok P; Green Lane Cardiovascular Service, Auckland City Hospital, Auckland, New Zealand.
  • Anderson LJ; Department of Cardiology, St George's Hospital, London, UK.
  • Elliott P; Barts Heart Centre, London, UK.
  • Watkinson O; Barts Heart Centre, London, UK.
  • Occleshaw C; Green Lane Cardiovascular Service, Auckland City Hospital, Auckland, New Zealand.
  • Abernathy M; Wakefield Heart Centre, Wakefield Hospital, Wellington, New Zealand.
  • Turner C; Anatomical Pathology, LabPlus, Auckland City Hospital, Auckland, New Zealand.
  • Kingston N; Anatomical Pathology, LabPlus, Auckland City Hospital, Auckland, New Zealand.
  • Murphy E; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.
  • Oldfors A; Department of Pathology and Genetics, University of Gothenburg, Gothenburg, Sweden. anders.oldfors@gu.se.
J Inherit Metab Dis ; 40(1): 139-149, 2017 01.
Article em En | MEDLINE | ID: mdl-27718144
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Glicoproteínas / Mutação de Sentido Incorreto / Glucosiltransferases / Cardiomiopatias Limite: Adult / Humans / Male / Middle aged Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Glicoproteínas / Mutação de Sentido Incorreto / Glucosiltransferases / Cardiomiopatias Limite: Adult / Humans / Male / Middle aged Idioma: En Ano de publicação: 2017 Tipo de documento: Article