Impact of hematopoietic stem cell transplantation in glycogen storage disease type Ib: A single-subject research design using 13C-glucose breath test-Reference-Cited by-同舟云学术

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Impact of hematopoietic stem cell transplantation in glycogen storage disease type Ib: A single-subject research design using 13C-glucose breath test

Published:2023-03 Issue: Volume:34 Page:100955
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Turki Abrar,Stockler Sylvia,Sirrs Sandra,Duddy Kathleen,Ho Gloria,Elango Rajavel

Funder

Saudi Arabian Cultural Bureau

Canadian Institutes of Health Research

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference31 articles.

1. A new variant of glycogen storage disease type I probably due to a defect in the glucose-6-phosphate transport system;Narisawa;Biochem. Biophys. Res. Commun.,1978

2. The gene for glycogen-storage disease type 1b maps to chromosome 11q23;Annabi;Am. J. Hum. Genet.,1998

3. Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics;Kishnani;Genet Med.,2014

4. Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a;Lei;Science.,1993

5. A glucose-6-phosphate hydrolase, widely expressed outside the liver, can explain age-dependent resolution of hypoglycemia in glycogen storage disease type Ia;Shieh;J. Biol. Chem.,2003

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