[Human geneticist from Würzburg discovers a new hereditary disease. Schindler disease: an autosome recessive neuro-axonal dystrophy].
作者信息
Höhn H
机构信息
Institut für Humangenetik, Universität Würzburg.
出版信息
Fortschr Med. 1991 Sep 30;109(28):570-1.
PMID:1757057
Abstract
摘要
相似文献
1
2
[Schindler disease/Kanzaki disease [alpha-N-acetylgalactosaminidase deficiency]].[辛德勒病/神崎病[α-N-乙酰半乳糖胺酶缺乏症]]
Ryoikibetsu Shokogun Shirizu. 1998(19 Pt 2):372-4.
3
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.
4
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.
5
[Schindler-disease/Kanzaki disease].[辛德勒病/神崎病]
Ryoikibetsu Shokogun Shirizu. 2001(34 Pt 2):608-10.
6
Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy.辛德勒病：α-N-乙酰半乳糖胺酶基因中的分子病变导致婴儿型神经轴索性营养不良。
J Clin Invest. 1990 Nov;86(5):1752-6. doi: 10.1172/JCI114901.
7
[Meckel-Gruber syndrome].[梅克尔-格鲁伯综合征]
Pathologe. 1993 Jan;14(1):32-5.
8
Autosomal recessive inheritance of polymicrogyria and dermatomyositis with paracrystalline inclusions.
Clin Neuropathol. 1990 Nov-Dec;9(6):299-304.
9
Autosomal recessive disease.常染色体隐性疾病。
Acta Neurol Scand. 1993 May;87(5):428.
10
[Schindler disease/Kanzaki disease].
Nihon Rinsho. 1995 Dec;53(12):2982-7.
Zotero 插件