涉及骨骼肌的1-磷酸半乳糖尿苷转移酶缺乏症的分子基础。 - Suppr

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超能文献

Molecular basis of galactose-1-phosphate uridyltransferase deficiency involving skeletal muscle.

作者信息

Ninfali P, Bresolin N, Dallapiccola B, Novelli G

机构信息

Istituto di Chimica Biologica G. Fornaini, Università di Urbino, Italy.

出版信息

J Neurol. 1996 Jan;243(1):102-3. doi: 10.1007/BF00878541.

DOI:10.1007/BF00878541

PMID:8869397

Abstract

摘要

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Semi-micro techniques for the genotyping of galactokinase and galactose-1-phosphate uridyltransferase.半微量技术用于半乳糖激酶和1-磷酸半乳糖尿苷酰转移酶的基因分型。

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Galactitol and galactonate accumulation in heart and skeletal muscle of mice with deficiency of galactose-1-phosphate uridyltransferase.1-磷酸半乳糖尿苷转移酶缺乏的小鼠心脏和骨骼肌中半乳糖醇和半乳糖酸的积累

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引用本文的文献

Galactose toxicity in animals.动物的半乳糖毒性。

IUBMB Life. 2009 Nov;61(11):1063-74. doi: 10.1002/iub.262.

本文引用的文献

Clinical and biochemical evidence of skeletal muscle involvement in galactose-1-phosphate uridyl transferase deficiency.1-磷酸半乳糖尿苷酰转移酶缺乏症中骨骼肌受累的临床和生化证据。

J Neurol. 1993 May;240(5):272-7. doi: 10.1007/BF00838160.

Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.半乳糖血症的分子基础：编码人类1-磷酸半乳糖尿苷酰转移酶基因中的突变与多态性

Proc Natl Acad Sci U S A. 1991 Apr 1;88(7):2633-7. doi: 10.1073/pnas.88.7.2633.

Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase.两种半乳糖血症突变的分子特征：突变与1-磷酸半乳糖尿苷酰转移酶中高度保守结构域的相关性

Am J Hum Genet. 1991 Oct;49(4):860-7.

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