青少年GM2神经节苷脂贮积症：己糖胺酶A部分缺乏。 - Suppr

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Juvenile GM2 gangliosidosis: partial deficiency of hexosaminidase A.

作者信息

Okada S, Veath M L, O'Brien J S

出版信息

J Pediatr. 1970 Dec;77(6):1063-5. doi: 10.1016/s0022-3476(70)80096-8.

DOI:10.1016/s0022-3476(70)80096-8

PMID:5486623

Abstract

摘要

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引用本文的文献

The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.青少年或亚急性GM2神经节苷脂沉积症的自然病史：21例新病例及对134例既往报道病例的文献综述

Pediatrics. 2006 Nov;118(5):e1550-62. doi: 10.1542/peds.2006-0588. Epub 2006 Oct 2.

Ganglioside storage diseases: an updated review.神经节苷脂贮积病：最新综述

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Alpha-locus hexosaminidase genetic compound with juvenile gangliosidosis phenotype: clinical, genetic, and biochemical studies.具有青少年型神经节苷脂沉积症表型的α-位点己糖胺酶基因复合征：临床、遗传和生化研究

Am J Hum Genet. 1980 Jul;32(4):508-18.

Juvenile GM2 gangliosidosis (AMB variant): inability to activate hexosaminidase A by activator protein.青少年GM2神经节苷脂沉积症（AMB变异型）：无法通过激活蛋白激活己糖胺酶A。

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Genetic heterogeneity in metachromatic leukodystrophy.异染性脑白质营养不良中的遗传异质性。

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Arch Dis Child. 1973 Oct;48(10):775-85. doi: 10.1136/adc.48.10.775.

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