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ALG8-CDG: novel patients and review of the literature.
Höck, Michaela; Wegleiter, Karina; Ralser, Elisabeth; Kiechl-Kohlendorfer, Ursula; Scholl-Bürgi, Sabine; Fauth, Christine; Steichen, Elisabeth; Pichler, Karin; Lefeber, Dirk J; Matthjis, Gert; Keldermans, Liesbeth; Maurer, Kathrin; Zschocke, Johannes; Karall, Daniela.
Afiliação
  • Höck M; Medical University of Innsbruck, Clinic for Pediatrics II, Division of Neonatology, Innsbruck, Austria. Michaela.hoeck@i-med.ac.at.
  • Wegleiter K; Medical University of Innsbruck, Clinic for Pediatrics II, Division of Neonatology, Innsbruck, Austria. karina.wegleiter@i-med.ac.at.
  • Ralser E; Medical University of Innsbruck, Clinic for Pediatrics II, Division of Neonatology, Innsbruck, Austria. Elisabeth.ralser@i-med.ac.at.
  • Kiechl-Kohlendorfer U; Medical University of Innsbruck, Clinic for Pediatrics II, Division of Neonatology, Innsbruck, Austria. Ursula.kohlendorfer@i-med.ac.at.
  • Scholl-Bürgi S; Medical University of Innsbruck, Clinic for Pediatrics I, Inherited Metabolic Disorders, Anichstrasse 35, 6020, Innsbruck, Austria. sabine.scholl-buergi@uki.at.
  • Fauth C; Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Medical University of Innsbruck, Innsbruck, Austria. Christine.fauth@i-med.ac.at.
  • Steichen E; Medical University of Innsbruck, Clinic for Pediatrics I, Inherited Metabolic Disorders, Anichstrasse 35, 6020, Innsbruck, Austria. Elisabeth.steichen@i-med.ac.at.
  • Pichler K; Medical University of Innsbruck, Clinic for Pediatrics I, Inherited Metabolic Disorders, Anichstrasse 35, 6020, Innsbruck, Austria. ka.pichler@uki.at.
  • Lefeber DJ; Department of Neurology, Translational Metabolic Laboratory of Genetic, Endocrine and Metabolic Diseases, Radboud University Medical Center, Nijmegen, The Netherlands. Dirk.Lefeber@radboudumc.nl.
  • Matthjis G; Center for Human Genetics of the University of Leuven, Leuven, Belgium. gert.matthijs@uzleuven.be.
  • Keldermans L; Center for Human Genetics of the University of Leuven, Leuven, Belgium. Liesbeth.Keldermans@med.kuleuven.be.
  • Maurer K; Department of Radiology, Medical University of Innsbruck, Innsbruck, Austria. kathrin.maurer@i-med.ac.at.
  • Zschocke J; Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Medical University of Innsbruck, Innsbruck, Austria. Johannes.zschocke@i-med.ac.at.
  • Karall D; Medical University of Innsbruck, Clinic for Pediatrics I, Inherited Metabolic Disorders, Anichstrasse 35, 6020, Innsbruck, Austria. daniela.karall@i-med.ac.at.
Orphanet J Rare Dis ; 10: 73, 2015 Jun 12.
Article em En | MEDLINE | ID: mdl-26066342
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Defeitos Congênitos da Glicosilação / Glucosiltransferases Tipo de estudo: Prognostic_studies Limite: Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Defeitos Congênitos da Glicosilação / Glucosiltransferases Tipo de estudo: Prognostic_studies Limite: Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2015 Tipo de documento: Article