A novel phosphoglucomutase‐deficient mouse model reveals aberrant glycosylation and early embryonic lethality-Reference-Cited by-同舟云学术

A novel phosphoglucomutase‐deficient mouse model reveals aberrant glycosylation and early embryonic lethality

Published:2019-06-21 Issue:5 Volume:42 Page:998-1007
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Balakrishnan Bijina¹,Verheijen Jan²,Lupo Arielle¹,Raymond Kimiyo²,Turgeon Coleman²,Yang Yueqin¹,Carter Kandis L.³,Whitehead Kevin J.³,Kozicz Tamas²,Morava Eva²,Lai Kent¹^ORCID

Affiliation:

1. Department of PediatricsUniversity of Utah School of Medicine Salt Lake City Utah

2. Center for Individualized Medicine, Department of Clinical Genomics, and Biochemical Genetics LaboratoryMayo Clinic Rochester Minnesota

3. Small Animal Ultrasound Core FacilityUniversity of Utah School of Medicine Salt Lake City Utah

Funder

National Center for Advancing Translational Sciences

National Institutes of Health

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12110

Reference28 articles.

1. Mutations in hereditary phosphoglucomutase 1 deficiency map to key regions of enzyme structure and function

2. Glycogen storage disease‐like phenotype with central nervous system involvement in a PGM1‐CDG patient;Ondruskova N;Neuroendocrinol Lett,2014

3. PGM1 deficiency: Substrate use during exercise and effect of treatment with galactose

4. Congenital disorders of glycosylation (CDG): it’s (nearly) all in it!

5. A case with rare type of congenital disorder of glycosylation: Pgm1‐Cdg;Kucukcongar A;Genet Couns,2015

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