Glycogen storage disease type la in three siblings with the G270V mutation

R. Parvari; J. Isam; S. W. Moses

doi:10.1023/A:1005445802822

Glycogen storage disease type la in three siblings with the G270V mutation

R. Parvari, J. Isam, S. W. Moses

The Shraga Segal Department of Microbiology and Immunology

Research output: Contribution to journal › Article › peer-review

9 Scopus citations

Abstract

Glycogen storage disease type 1a (von Gierke disease, GSD1a) is caused by the deficiency of microsomal glucose-6-phosphatase (G6Pase) activity. The cloning of G6Pase cDNA and characterization of the human G6Pase gene enabled the identification of the mutations causing GSD1a. Here we report on the clinical and biochemical features of three GSD1a siblings of a Muslim Arab family with a G270V mutation. Two older patients presented with an unusually mild clinical and biochemical course.

Original language	English
Pages (from-to)	149-154
Number of pages	6
Journal	Journal of Inherited Metabolic Disease
Volume	22
Issue number	2
DOIs	https://doi.org/10.1023/A:1005445802822
State	Published - 26 Apr 1999

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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title = "Glycogen storage disease type la in three siblings with the G270V mutation",

abstract = "Glycogen storage disease type 1a (von Gierke disease, GSD1a) is caused by the deficiency of microsomal glucose-6-phosphatase (G6Pase) activity. The cloning of G6Pase cDNA and characterization of the human G6Pase gene enabled the identification of the mutations causing GSD1a. Here we report on the clinical and biochemical features of three GSD1a siblings of a Muslim Arab family with a G270V mutation. Two older patients presented with an unusually mild clinical and biochemical course.",

author = "R. Parvari and J. Isam and Moses, {S. W.}",

note = "Funding Information: This work was supported in part by a donation of Herman Silver for the study of metabolic genetic diseases and in part by the American Physicians Fellowship for Medicine in Israel. We thank Mrs Magda Bartal for her excellent technical assistance.",

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AU - Parvari, R.

AU - Isam, J.

AU - Moses, S. W.

N1 - Funding Information: This work was supported in part by a donation of Herman Silver for the study of metabolic genetic diseases and in part by the American Physicians Fellowship for Medicine in Israel. We thank Mrs Magda Bartal for her excellent technical assistance.

PY - 1999/4/26

Y1 - 1999/4/26

N2 - Glycogen storage disease type 1a (von Gierke disease, GSD1a) is caused by the deficiency of microsomal glucose-6-phosphatase (G6Pase) activity. The cloning of G6Pase cDNA and characterization of the human G6Pase gene enabled the identification of the mutations causing GSD1a. Here we report on the clinical and biochemical features of three GSD1a siblings of a Muslim Arab family with a G270V mutation. Two older patients presented with an unusually mild clinical and biochemical course.

AB - Glycogen storage disease type 1a (von Gierke disease, GSD1a) is caused by the deficiency of microsomal glucose-6-phosphatase (G6Pase) activity. The cloning of G6Pase cDNA and characterization of the human G6Pase gene enabled the identification of the mutations causing GSD1a. Here we report on the clinical and biochemical features of three GSD1a siblings of a Muslim Arab family with a G270V mutation. Two older patients presented with an unusually mild clinical and biochemical course.

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M3 - Article

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JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

IS - 2

ER -

Glycogen storage disease type la in three siblings with the G270V mutation

Abstract

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