Literature DB >> 10604148

Hypercalcaemia in glycogen storage disease type Ia: a case with R83H and 341delG mutations.

W L Hwu1, S C Chiang, S F Huang, M H Chang, W H Wen, T R Wang.   

Abstract

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Year:  1999        PMID： 10604148     DOI： 10.1023/a:1005651809892

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  2 in total

1.  Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia.

Authors:  W L Hwu; S C Chuang; L P Tsai; M H Chang; S M Chuang; T R Wang
Journal:  Hum Mol Genet       Date:  1995-06       Impact factor: 6.150

2.  Nephrolithiasis, hypocitraturia, and a distal renal tubular acidification defect in type 1 glycogen storage disease.

Authors:  I Restaino; B S Kaplan; C Stanley; L Baker
Journal:  J Pediatr       Date:  1993-03       Impact factor: 4.406
  2 in total
  1 in total

Review 1.  Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease.

Authors:  Janice Y Chou; Brian C Mansfield
Journal:  Hum Mutat       Date:  2008-07       Impact factor: 4.878
  1 in total

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