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Emerging therapies for glycogen storage disease type I.

Publication ,  Journal Article
Koeberl, DD; Kishnani, PS; Bali, D; Chen, Y-T
Published in: Trends Endocrinol Metab
July 2009

Glycogen storage disease type I (GSD I) is caused by deficiency of the glucose-6-phosphatase catalytic subunit in type Ia or of glucose-6-phosphate transporter in type Ib. The cellular bases for disruptions of homeostasis have been increasingly understood in GSD I, including those for anemia, renal failure and neutropenia. Advances in the understanding of cellular abnormalities in GSD I have provided rationales for new therapy, and recent developments in gene therapy have led to potential curative treatments for GSD I. These advances will benefit patients with GSD I in the future, improving both quality of life and survival, as well as illuminating the molecular effects of altered metabolism upon multiple organ systems.

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Published In

Trends Endocrinol Metab

DOI

EISSN

1879-3061

Publication Date

July 2009

Volume

20

Issue

5

Start / End Page

252 / 258

Location

United States

Related Subject Headings

  • Models, Biological
  • Humans
  • Glycogen Storage Disease Type I
  • Genetic Therapy
  • Endocrinology & Metabolism
  • 3215 Reproductive medicine
  • 1114 Paediatrics and Reproductive Medicine
  • 1103 Clinical Sciences
 

Citation

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Koeberl, D. D., Kishnani, P. S., Bali, D., & Chen, Y.-T. (2009). Emerging therapies for glycogen storage disease type I. Trends Endocrinol Metab, 20(5), 252–258. https://doi.org/10.1016/j.tem.2009.02.003
Koeberl, D. D., P. S. Kishnani, D. Bali, and Y. -. T. Chen. “Emerging therapies for glycogen storage disease type I.Trends Endocrinol Metab 20, no. 5 (July 2009): 252–58. https://doi.org/10.1016/j.tem.2009.02.003.
Koeberl DD, Kishnani PS, Bali D, Chen Y-T. Emerging therapies for glycogen storage disease type I. Trends Endocrinol Metab. 2009 Jul;20(5):252–8.
Koeberl, D. D., et al. “Emerging therapies for glycogen storage disease type I.Trends Endocrinol Metab, vol. 20, no. 5, July 2009, pp. 252–58. Pubmed, doi:10.1016/j.tem.2009.02.003.
Koeberl DD, Kishnani PS, Bali D, Chen Y-T. Emerging therapies for glycogen storage disease type I. Trends Endocrinol Metab. 2009 Jul;20(5):252–258.
Journal cover image

Published In

Trends Endocrinol Metab

DOI

EISSN

1879-3061

Publication Date

July 2009

Volume

20

Issue

5

Start / End Page

252 / 258

Location

United States

Related Subject Headings

  • Models, Biological
  • Humans
  • Glycogen Storage Disease Type I
  • Genetic Therapy
  • Endocrinology & Metabolism
  • 3215 Reproductive medicine
  • 1114 Paediatrics and Reproductive Medicine
  • 1103 Clinical Sciences