An emerging role for endothelial barrier support therapy for congenital disorders of glycosylation-Reference-Cited by-同舟云学术

An emerging role for endothelial barrier support therapy for congenital disorders of glycosylation

Published:2020-02-27 Issue:4 Volume:43 Page:880-890
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Brucker William J.¹^ORCID,Croteau Stacy E.²^ORCID,Prensner John R.²,Cullion Kate³,Heeney Matthew M.²,Lo Jeffrey⁴,McAlvin James B.³,Peeler Katherine³,Shah Nidhi¹,Yee Christina S. K.⁴,Berry Gerard T.¹,Bodamer Olaf¹

Affiliation:

1. Division of Genetics and Genomics Boston Children's Hospital and Harvard Medical School Boston Massachusetts

2. Dana Farber/Boston Children's Cancer and Blood Disorders Center and Harvard Medical School Boston Massachusetts

3. Division of Medical Critical Care Boston Children's Hospital and Harvard Medical School Boston Massachusetts

4. Division of Immunology Boston Children's Hospital and Harvard Medical School Boston Massachusetts

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12225

Reference26 articles.

1. Perspectives on Glycosylation and Its Congenital Disorders

2. Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II

3. Congenital disorders of glycosylation

4. Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an update

5. Pericardial and abdominal fluid accumulation in Congenital Disorder of Glycosylation type Ia

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2. PIGO‐CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerations;JIMD Reports;2023-09-20

3. An oligogenic case of severe neonatal thrombocytopenia and a purportedly benign variant in GFI1B requiring reinterpretation;Platelets;2023-08-14

4. Epidemiology of congenital disorders of glycosylation (CDG)—overview and perspectives;Journal of Rare Diseases;2022-12-07

5. Nutrition interventions in congenital disorders of glycosylation;Trends in Molecular Medicine;2022-06