B4GALT1‐congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature-Reference-Cited by-同舟云学术

B4GALT1‐congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature

Published:2020-03-16 Issue:6 Volume:97 Page:920-926
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Staretz‐Chacham Orna¹²³,Noyman Iris³⁴,Wormser Ohad⁵⁶,Abu Quider Abed³,Hazan Guy³,Morag Iris⁷,Hadar Noam⁶,Raymond Kimiyo⁸,Birk Ohad S.⁵⁶,Ferreira Carlos R.⁹,Koifman Arie⁵

Affiliation:

1. Metabolic ClinicSoroka University Medical Center, Ben Gurion University Beer Sheva Israel

2. Neonatology UnitSoroka University Medical Center, Ben Gurion University Beer Sheva Israel

3. Division of PediatricsSoroka University Medical Center, Ben Gurion University Beer Sheva Israel

4. Pediatric Neurology UnitSoroka University Medical Center, Ben Gurion University Beer Sheva Israel

5. Genetics InstituteSoroka University Medical Center, Ben Gurion University Beer Sheva Israel

6. The Morris Kahn Laboratory of Human GeneticsNational Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben Gurion University of the Negev Beer Sheva Israel

7. Department of Pediatrics, The Edmond and Lily Safra Children's Hospital at Chaim Sheba Medical CenterSackler School of Medicine Tel Aviv University Tel Aviv Israel

8. Department of Laboratory Medicine and PathologyMayo College of Medicine Rochester Minnesota USA

9. Medical Genomics and Metabolic Genetics BranchNational Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13735

Reference19 articles.

1. Solving Glycosylation Disorders: Fundamental Approaches Reveal Complicated Pathways

2. Deficiency of UDP-galactose:N-acetylglucosamine β-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId

3. B4GALT1-Congenital Disorders of Glycosylation Presents as a Non-Neurologic Glycosylation Disorder with Hepatointestinal Involvement

4. Clinical and molecular diagnosis of non‐phosphomannomutase 2 N‐linked congenital disorders of glycosylation in Spain

5. A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis

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4. N-Glycoprofiling of SLC35A2-CDG: Patient with a Novel Hemizygous Variant;Biomedicines;2023-02-16

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