由于溶酶体α-N-乙酰半乳糖胺酶缺乏导致的神经轴索性营养不良。 - Suppr

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超能文献

Neuroaxonal dystrophy due to lysosomal alpha-N-acetylgalactosaminidase deficiency.

作者信息

Schindler D, Bishop D F, Wolfe D E, Wang A M, Egge H, Lemieux R U, Desnick R J

机构信息

Division of Medical and Molecular Genetics, Mount Sinai School of Medicine, New York, NY 10029.

出版信息

N Engl J Med. 1989 Jun 29;320(26):1735-40. doi: 10.1056/NEJM198906293202606.

DOI:10.1056/NEJM198906293202606

PMID:2733734

Abstract

摘要

相似文献

Neuroaxonal dystrophy due to lysosomal alpha-N-acetylgalactosaminidase deficiency.由于溶酶体α-N-乙酰半乳糖胺酶缺乏导致的神经轴索性营养不良。

N Engl J Med. 1989 Jun 29;320(26):1735-40. doi: 10.1056/NEJM198906293202606.

Lysosomal alpha-N-acetylgalactosaminidase deficiency, the enzymatic defect in angiokeratoma corporis diffusum with glycopeptiduria.溶酶体α-N-乙酰半乳糖胺酶缺乏症，即弥漫性躯体血管角质瘤伴糖肽尿症中的酶缺陷。

J Clin Invest. 1991 Aug;88(2):707-11. doi: 10.1172/JCI115357.

alpha-N-acetylgalactosaminidase deficiency, a new lysosomal storage disorder.α-N-乙酰半乳糖胺酶缺乏症，一种新的溶酶体贮积症。

J Inherit Metab Dis. 1988;11(4):349-57. doi: 10.1007/BF01800424.

Schindler disease: an inherited neuroaxonal dystrophy due to alpha-N-acetylgalactosaminidase deficiency.辛德勒病：一种由于α-N-乙酰半乳糖胺酶缺乏引起的遗传性神经轴索性营养不良。

J Inherit Metab Dis. 1990;13(4):549-59. doi: 10.1007/BF01799512.

Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: no association with neuroaxonal dystrophy?人类α-N-乙酰半乳糖胺酶（α-NAGA）缺乏症：与神经轴索性营养不良无关？

Eur J Hum Genet. 2001 Feb;9(2):91-6. doi: 10.1038/sj.ejhg.5200598.

Angiokeratoma corporis diffusum with glycopeptiduria due to deficient lysosomal alpha-N-acetylgalactosaminidase activity. Clinical, morphologic, and biochemical studies.因溶酶体α-N-乙酰半乳糖胺酶活性缺乏导致的弥漫性躯体血管角质瘤伴糖肽尿。临床、形态学及生化研究

Arch Dermatol. 1993 Apr;129(4):460-5.

Neuroaxonal dystrophy in infantile alpha-N-acetylgalactosaminidase deficiency.婴儿α-N-乙酰半乳糖胺酶缺乏症中的神经轴索性营养不良。

J Neurol Sci. 1995 Sep;132(1):44-56. doi: 10.1016/0022-510x(95)00124-k.

[Schindler disease/Kanzaki disease [alpha-N-acetylgalactosaminidase deficiency]].

Ryoikibetsu Shokogun Shirizu. 1998(19 Pt 2):372-4.

[Human geneticist from Würzburg discovers a new hereditary disease. Schindler disease: an autosome recessive neuro-axonal dystrophy].[维尔茨堡的人类遗传学家发现一种新的遗传性疾病。辛德勒病：一种常染色体隐性神经轴索性营养不良症]

Fortschr Med. 1991 Sep 30;109(28):570-1.

Cerebral glucose metabolism in type I alpha-N-acetylgalactosaminidase deficiency: an infantile neuroaxonal dystrophy.I型α-N-乙酰半乳糖胺酶缺乏症中的脑葡萄糖代谢：一种婴儿型神经轴索性营养不良。

J Child Neurol. 1999 Aug;14(8):543-7. doi: 10.1177/088307389901400813.

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Schistosoma mansoni α-N-acetylgalactosaminidase (SmNAGAL) regulates coordinated parasite movement and egg production.曼氏血吸虫α-N-乙酰半乳糖胺酶（SmNAGAL）调节寄生虫的协调运动和产卵。

PLoS Pathog. 2022 Jan 13;18(1):e1009828. doi: 10.1371/journal.ppat.1009828. eCollection 2022 Jan.

Chemical and structural characterization of α-N-acetylgalactosaminidase I and II from starfish, asterina amurensis.来自多棘海盘车的α-N-乙酰半乳糖胺酶I和II的化学与结构表征

BMC Biochem. 2017 May 25;18(1):9. doi: 10.1186/s12858-017-0085-1.

The 1.9 a structure of human alpha-N-acetylgalactosaminidase: The molecular basis of Schindler and Kanzaki diseases.人α-N-乙酰半乳糖胺酶的1.9 Å结构：辛德勒病和神崎病的分子基础。

J Mol Biol. 2009 Oct 23;393(2):435-47. doi: 10.1016/j.jmb.2009.08.021. Epub 2009 Aug 14.

Mutations in PLA2G6 and the riddle of Schindler disease.磷脂酶A2G6基因突变与辛德勒病之谜

J Med Genet. 2007 Jan;44(1):e64. doi: 10.1136/jmg.2006.044966.

PLA2G6 mutation underlies infantile neuroaxonal dystrophy.PLA2G6基因突变是婴儿神经轴索性营养不良的基础。

Am J Hum Genet. 2006 Nov;79(5):942-8. doi: 10.1086/508572. Epub 2006 Sep 19.

Structural and immunocytochemical studies on alpha-N-acetylgalactosaminidase deficiency (Schindler/Kanzaki disease).α-N-乙酰半乳糖胺酶缺乏症（辛德勒/神崎病）的结构和免疫细胞化学研究

J Hum Genet. 2004;49(1):1-8. doi: 10.1007/s10038-003-0098-z. Epub 2003 Dec 19.

Pathogenesis of axonal dystrophy and demyelination in alphaA-crystallin-expressing transgenic mice.表达αA-晶状体蛋白的转基因小鼠中轴突营养不良和脱髓鞘的发病机制。

Int J Exp Pathol. 2003 Apr;84(2):91-9. doi: 10.1046/j.1365-2613.2003.00340.x.

Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype.人类α-N-乙酰半乳糖胺酶（α-NAGA）缺乏症：新突变以及基因型与表型之间的矛盾

J Med Genet. 1996 Jun;33(6):458-64. doi: 10.1136/jmg.33.6.458.

The molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes angiokeratoma corporis diffusum with glycopeptiduria.导致弥漫性躯体血管角质瘤伴糖肽尿症的α-N-乙酰半乳糖胺酶基因中的分子病变。

J Clin Invest. 1994 Aug;94(2):839-45. doi: 10.1172/JCI117404.

Mild phenotypic expression of alpha-N-acetylgalactosaminidase deficiency in two adult siblings.两名成年同胞中α-N-乙酰半乳糖胺酶缺乏的轻度表型表达。

J Inherit Metab Dis. 1994;17(6):724-31. doi: 10.1007/BF00712015.

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