[Congenital hemolytic anemia due to triosephosphate isomerase deficiency].

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作者信息

Freycon F, Lauras B, Bovier-Lapierre F, Goddon R

出版信息

Pediatrie. 1975 Jan-Feb;30(1):55-65.

PMID:1129019

Abstract

摘要

相似文献

[Congenital hemolytic anemia due to triosephosphate isomerase deficiency].

Pediatrie. 1975 Jan-Feb;30(1):55-65.

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引用本文的文献

Human triosephosphate isomerase deficiency resulting from mutation of Phe-240.由苯丙氨酸-240突变导致的人类磷酸丙糖异构酶缺乏症。

Am J Hum Genet. 1993 Jun;52(6):1260-9.

Hereditary triosephosphate isomerase (TPI) deficiency: two severely affected brothers one with and one without neurological symptoms.遗传性磷酸丙糖异构酶（TPI）缺乏症：两名严重受影响的兄弟，其中一名有神经症状，另一名没有。

Hum Genet. 1993 Nov;92(5):486-90. doi: 10.1007/BF00216456.

Prevalence of partial deficiency of red cell triosephosphate isomerase in Germany--a study of 3000 people.德国红细胞磷酸丙糖异构酶部分缺乏症的患病率——一项对3000人的研究。

Hum Genet. 1984;67(3):336-9. doi: 10.1007/BF00291364.

Hereditary triose phosphate isomerase deficiency: seven new homozygous cases.遗传性磷酸丙糖异构酶缺乏症：7例新的纯合子病例。

Hum Genet. 1985;71(3):235-40. doi: 10.1007/BF00284582.

Triosephosphate isomerase deficiency: haemolytic anaemia, myopathy with altered mitochondria and mental retardation due to a new variant with accelerated enzyme catabolism and diminished specific activity.

Eur J Pediatr. 1991 Sep;150(11):761-6. doi: 10.1007/BF02026706.

Triosephosphate isomerase deficiency with hemolytic anemia and severe neuromuscular disease: familial and biochemical studies of a case found in Spain.

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