ALG13 X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes-Reference-Cited by-同舟云学术

ALG13 X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes

Published:2021-03-26 Issue:4 Volume:44 Page:1001-1012
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Alsharhan Hind¹²³^ORCID,He Miao²,Edmondson Andrew C.¹,Daniel Earnest J. P.²,Chen Jie²,Donald Tyhiesia⁴⁵,Bakhtiari Somayeh⁶⁷,Amor David J.⁸,Jones Elizabeth A.⁹¹⁰,Vassallo Grace¹¹,Vincent Marie¹²,Cogné Benjamin¹²,Deb Wallid¹²,Werners Arend H.¹³,Jin Sheng C.¹⁴,Bilguvar Kaya¹⁵,Christodoulou John¹⁶¹⁷,Webster Richard I.¹⁸,Yearwood Katherine R.¹⁹,Ng Bobby G.²⁰,Freeze Hudson H.²⁰,Kruer Michael C.⁶⁷,Li Dong¹,Raymond Kimiyo M.²¹,Bhoj Elizabeth J.¹,Sobering Andrew K.²²²³

Affiliation:

1. Division of Human Genetics, Department of Pediatrics The Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

2. Department of Pathology and Laboratory Medicine The Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

3. Department of Pediatrics, Faculty of Medicine Kuwait University Kuwait City Kuwait

4. Pediatrics Ward, Grenada General Hospital St. George's Grenada

5. Clinical Teaching Unit, St. George's University St. George's Grenada

6. Pediatric Movement Disorders Program, Division of Pediatric Neurology Barrow Neurological Institute, Phoenix Children's Hospital Phoenix Arizona USA

7. Departments of Child Health, Neurology, Cellular & Molecular Medicine and Program in Genetics University of Arizona College of Medicine Phoenix Arizona USA

8. Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, and Department of Pediatrics University of Melbourne Melbourne Australia

9. Manchester Centre for Genomic Medicine Saint Mary's Hospital, Manchester University NHS Foundation Trust Manchester UK

10. 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

11. Department of Pediatric Neurology Royal Manchester Children's Hospital, Manchester University Foundation Trust Manchester UK

12. Service de génétique médicale, CHU de Nantes Nantes France

13. Department of Anatomy, Physiology and Pharmacology St. George University School of Veterinary Medicine St. George's Grenada

14. Department of Genetics and Pediatrics Washington University St. Louis Missouri USA

15. Department of Genetics Yale Center for Genome Analysis, Yale School of Medicine New Haven Connecticut USA

16. Brain and Mitochondrial Research Group Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, and Department of Pediatrics, University of Melbourne Melbourne Australia

17. Discipline of Child & Adolescent Health Sydney Medical School, University of Sydney Sydney Australia

18. Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead Sydney New South Wales Australia

19. St. George's University, University Health Services St. George's Grenada

20. Human Genetics Program, Sanford Children's Health Research Center, Sanford Burnham Prebys Medical Discovery Institute La Jolla California USA

21. Department of Laboratory Medicine and Pathology Mayo Clinic Rochester Minnesota USA

22. Department of Biochemistry St. George's University School of Medicine St. George's Grenada

23. Windward Islands Research and Education Foundation True Blue, St. George's Grenada

Funder

National Institutes of Health

State Government of Victoria

National Human Genome Research Institute

National Institute for Health Research

Department of Health, Australian Government

Wellcome Trust

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12378

Reference34 articles.

1. What is new in CDG?

2. Congenital disorders of glycosylation: Still “hot” in 2020

3. Congenital disorders of glycosylation

4. Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

5. X chromosome exome sequencing reveals a novelALG13mutation in a nonsyndromic intellectual disability family with multiple affected male siblings

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