Hepatic glycogen synthase (GYS2) deficiency: seven novel patients and seven novel variants-Reference-Cited by-同舟云学术

Hepatic glycogen synthase (GYS2) deficiency: seven novel patients and seven novel variants

Published:2020-02-25 Issue:1 Volume:53 Page:39-44
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Kamenets Elena A.¹^ORCID,Gusarova Elena A.¹,Milovanova Natalia V.¹,Itkis Yulia S.¹,Strokova Tatiana V.²³,Melikyan Maria A.⁴,Garyaeva Irina V.⁵,Rybkina Irina G.⁵,Nikitina Natalia V.⁶,Zakharova Ekaterina Y.¹

Affiliation:

1. Research Centre for Medical Genetics Federal State Budgetary Institution Moscow Russia

2. Federal Research Center for Nutrition and Biotechnology Federal State Budgetary Institution Moscow Russia

3. Pirogov Russian National Research Medical University Federal State Budgetary Institution Moscow Russia

4. National Research Center for Endocrinology Federal State Budgetary Institution Moscow Russia

5. Morozov municipal children's Hospital of Moscow City Federal State Budgetary Institution Moscow Russia

6. Clinical‐Diagnostic Center of Mother and Child Health Protection Federal State Budgetary Institution Yekaterinburg Russia

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12082

Reference13 articles.

1. The variable clinical phenotype of three patients with hepatic glycogen synthase deficiency

2. Inborn errors of metabolism in infancy and early childhood: an update;Raghuveer TS;Am Fam Physician,2006

3. Hepatic glycogen synthase deficiency: An infrequently recognized cause of ketotic hypoglycemia

4. Glycogen synthase deficiency (glycogen storage disease type 0) presenting with hyperglycemia and glucosuria: Report of three new mutations

5. The Human Liver Glycogen Synthase Isozyme Gene Is Located on the Short Arm of Chromosome 12

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