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ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes.
Alsharhan, Hind; He, Miao; Edmondson, Andrew C; Daniel, Earnest J P; Chen, Jie; Donald, Tyhiesia; Bakhtiari, Somayeh; Amor, David J; Jones, Elizabeth A; Vassallo, Grace; Vincent, Marie; Cogné, Benjamin; Deb, Wallid; Werners, Arend H; Jin, Sheng C; Bilguvar, Kaya; Christodoulou, John; Webster, Richard I; Yearwood, Katherine R; Ng, Bobby G; Freeze, Hudson H; Kruer, Michael C; Li, Dong; Raymond, Kimiyo M; Bhoj, Elizabeth J; Sobering, Andrew K.
Afiliação
  • Alsharhan H; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • He M; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Edmondson AC; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.
  • Daniel EJP; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Chen J; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Donald T; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Bakhtiari S; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Amor DJ; Pediatrics Ward, Grenada General Hospital, St. George's, Grenada.
  • Jones EA; Clinical Teaching Unit, St. George's University, St. George's, Grenada.
  • Vassallo G; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.
  • Vincent M; Departments of Child Health, Neurology, Cellular & Molecular Medicine and Program in Genetics, University of Arizona College of Medicine, Phoenix, Arizona, USA.
  • Cogné B; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, and Department of Pediatrics, University of Melbourne, Melbourne, Australia.
  • Deb W; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
  • Werners AH; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.
  • Jin SC; Department of Pediatric Neurology, Royal Manchester Children's Hospital, Manchester University Foundation Trust, Manchester, UK.
  • Bilguvar K; Service de génétique médicale, CHU de Nantes, Nantes, France.
  • Christodoulou J; Service de génétique médicale, CHU de Nantes, Nantes, France.
  • Webster RI; Service de génétique médicale, CHU de Nantes, Nantes, France.
  • Yearwood KR; Department of Anatomy, Physiology and Pharmacology, St. George University School of Veterinary Medicine, St. George's, Grenada.
  • Ng BG; Department of Genetics and Pediatrics, Washington University, St. Louis, Missouri, USA.
  • Freeze HH; Department of Genetics, Yale Center for Genome Analysis, Yale School of Medicine, New Haven, Connecticut, USA.
  • Kruer MC; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, and Department of Pediatrics, University of Melbourne, Melbourne, Australia.
  • Li D; Discipline of Child & Adolescent Health, Sydney Medical School, University of Sydney, Sydney, Australia.
  • Raymond KM; Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Bhoj EJ; St. George's University, University Health Services, St. George's, Grenada.
  • Sobering AK; Human Genetics Program, Sanford Children's Health Research Center, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.
J Inherit Metab Dis ; 44(4): 1001-1012, 2021 07.
Article em En | MEDLINE | ID: mdl-33734437
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: N-Acetilglucosaminiltransferases / Defeitos Congênitos da Glicosilação / Deficiência Intelectual Limite: Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: N-Acetilglucosaminiltransferases / Defeitos Congênitos da Glicosilação / Deficiência Intelectual Limite: Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article