<scp>DDOST‐CDG</scp> : Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype-Reference-Cited by-同舟云学术

DDOST‐CDG : Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype

Published:2022-10-17 Issue:1 Volume:46 Page:92-100
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J of Inher Metab Disea

Author:

Elsharkawi Ibrahim¹²,Wongkittichote Parith¹^ORCID,Daniel Earnest James Paul³,Starosta Rodrigo Tzovenos¹,Ueda Keisuke⁴,Ng Bobby G.⁵,Freeze Hudson H.⁵,He Miao³,Shinawi Marwan¹^ORCID

Affiliation:

1. Division of Genetics and Genomic Medicine, Department of Pediatrics St. Louis Children's Hospital, Washington University School of Medicine St. Louis Missouri USA

2. Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

3. Palmieri Metabolic Disease Laboratory Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

4. Division of Pediatric Neurology, Department of Neurology, St. Louis Children's Hospital Washington University School of Medicine St. Louis Missouri USA

5. Human Genetics Program Sanford Children's Health Research Center La Jolla California USA

Funder

National Institutes of Health

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12565

Reference44 articles.

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2. Solving Glycosylation Disorders: Fundamental Approaches Reveal Complicated Pathways

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5. Skin manifestations in CDG

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