A new D‐galactose treatment monitoring index for PGM1‐CDG-Reference-Cited by-同舟云学术

A new D‐galactose treatment monitoring index for PGM1‐CDG

Published:2021-06-22 Issue:5 Volume:44 Page:1263-1271
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Perales‐Clemente Ester¹^ORCID,Liedtke Kristen¹,Studinski April¹,Radenkovic Silvia²³,Gavrilov Dimitar¹,Oglesbee Devin¹,Matern Dietrich¹,Rinaldo Piero¹,Tortorelli Silvia¹,Morava Eva¹⁴,Raymond Kimiyo¹

Affiliation:

1. Department of Laboratory Medicine and Pathology Biochemical Genetics Laboratory, Mayo Clinic Rochester Minnesota USA

2. Katholieke Universiteit Leuven, VIB Center for Cancer Biology Leuven Belgium

3. Laboratory of Hepatology, Department CHROMETA, KU Leuven Belgium

4. Department of Clinical Genomics Mayo Clinic Rochester Minnesota USA

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12406

Reference10 articles.

1. Congenital disorders of glycosylation (CDG): Quo vadis?

2. Compromised Catalysis and Potential Folding Defects in in Vitro Studies of Missense Mutants Associated with Hereditary Phosphoglucomutase 1 Deficiency

3. A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene

4. Muscle Glycogenosis Due to Phosphoglucomutase 1 Deficiency

5. Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

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5. Unique clinical presentations and follow-up outcomes from experience with congenital disorders of glycosylation: PMM2-PGM1-DPAGT1-MPI-POMT2-B3GALNT2-DPM1-SRD5A3-CDG;Journal of Pediatric Endocrinology and Metabolism;2023-04-13