The role of <scp>PGM1</scp>isoform 2 in <scp>PGM1‐CDG</scp>: One step closer to genotype–phenotype correlation?-Reference-Cited by-同舟云学术

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The role of PGM1isoform 2 in PGM1‐CDG: One step closer to genotype–phenotype correlation?

Published:2023-03 Issue:2 Volume:46 Page:159-160
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J of Inher Metab Disea

Author:

Radenkovic Silvia¹,Laerdahl Jon K.²,Backe Paul H.²³,Morava Eva¹⁴⁵

Affiliation:

1. Department of Clinical Genomics Mayo Clinic Rochester Minnesota USA

2. Department of Microbiology Oslo University Hospital Oslo Norway

3. Department of Medical Biochemistry Institute for Clinical Medicine, University of Oslo Oslo Norway

4. Department of Laboratory Medicine and Pathology Mayo Clinic Rochester Minnesota USA

5. Department of Medical Genetics University of Pecs Medical School Pecs Hungary

Abstract

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Funder

National Institute of Neurological Disorders and Stroke

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12601

Reference4 articles.

1. International consensus guidelines for phosphoglucomutase 1 deficiency ( PGM1‐CDG ): Diagnosis, follow‐up, and management

2. AAV-based gene therapy prevents and halts the progression of dilated cardiomyopathy in a mouse model of phosphoglucomutase 1 deficiency (PGM1-CDG)

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