Ia型糖原贮积病中的高钙血症：一例伴有R83H和341delG突变的病例 - Suppr

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超能文献

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

作者信息

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

机构信息

Department of Pediatrics, National Taiwan University Hospital, Taipei, ROC.

出版信息

J Inherit Metab Dis. 1999 Dec;22(8):937-8. doi: 10.1023/a:1005651809892.

DOI:10.1023/a:1005651809892

PMID:10604148

Abstract

摘要

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本文引用的文献

Nephrolithiasis, hypocitraturia, and a distal renal tubular acidification defect in type 1 glycogen storage disease.1型糖原贮积病中的肾结石、低枸橼酸尿症和远端肾小管酸化缺陷。

J Pediatr. 1993 Mar;122(3):392-6. doi: 10.1016/s0022-3476(05)83422-5.

Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia.葡萄糖-6-磷酸酶基因G327A突变在中国I型糖原贮积病患者中很常见。

Hum Mol Genet. 1995 Jun;4(6):1095-6. doi: 10.1093/hmg/4.6.1095.

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