Deficiency of methylumbelliferyl-alpha-Neuraminic acid neuraminidase in the sialidoses and mucolipidosis II and III.
作者信息
Den Tandt W R, Leroy J G, Potier M
出版信息
Eur J Pediatr. 1980;133(1):71-2. doi: 10.1007/BF00444760.
PMID:7353573
Abstract
摘要
相似文献
1
Deficiency of methylumbelliferyl-alpha-Neuraminic acid neuraminidase in the sialidoses and mucolipidosis II and III.唾液酸沉积症以及黏脂贮积症II型和III型中甲基伞形酮基-α-神经氨酸神经氨酸酶的缺乏。
Eur J Pediatr. 1980;133(1):71-2. doi: 10.1007/BF00444760.
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本文引用的文献
1
Mutant enzymatic and cytological phenotypes in cultured human fibroblasts.培养的人成纤维细胞中的突变酶学和细胞学表型。
Science. 1967 Aug 18;157(3790):804-6. doi: 10.1126/science.157.3790.804.
2
Leroy's l-cell disease: markedly increased activity of plasma acid hydrolases.勒罗伊氏L细胞病：血浆酸性水解酶活性显著增加。
J Lab Clin Med. 1974 Mar;83(3):403-8.
3
Multiple lysosomal enzyme deficiency due to enzyme leakage?酶泄漏导致多种溶酶体酶缺乏？
N Engl J Med. 1971 Jan 14;284(2):109-10. doi: 10.1056/NEJM197101142840221.
4
Mucolipidosis I: increased sialic acid content and deficiency of an alpha-N-acetylneuraminidase in cultured fibroblasts.黏脂贮积症 I：培养的成纤维细胞中唾液酸含量增加及α-N-乙酰神经氨酸酶缺乏
Biochem Biophys Res Commun. 1977 Jan 24;74(2):732-8. doi: 10.1016/0006-291x(77)90363-1.
5
[A new type of sialidosis with kidney disease: nephrosialidosis. I. Clinical, radiological and nosological study].[一种伴有肾脏疾病的新型涎酸贮积症：肾性涎酸贮积症。I. 临床、放射学及疾病分类学研究]
Arch Fr Pediatr. 1978 Oct;35(8):819-29.
6
Sialidosis (mucolipidosis I).唾液酸沉积症（黏脂贮积症I型）
Helv Paediatr Acta. 1977 Nov;32(4-5):391-400.
7
Isolated acid neuraminidase deficiency: a distinct lysosomal storage disease.孤立性酸性神经氨酸酶缺乏症：一种独特的溶酶体贮积病。
Am J Med Genet. 1977;1(1):31-46. doi: 10.1002/ajmg.1320010105.
8
Mucolipidosis I--a sialidosis.黏脂贮积症I型——一种唾液酸沉积症。
Am J Med Genet. 1977;1(1):21-9. doi: 10.1002/ajmg.1320010104.
9
Neuraminidase deficiency in the cherry red spot-myoclonus syndrome.
Biochem Biophys Res Commun. 1977 Dec 21;79(4):1136-41. doi: 10.1016/0006-291x(77)91124-x.
10
Fluorometric assay of neuraminidase with a sodium (4-methylumbelliferyl-alpha-D-N-acetylneuraminate) substrate.
Anal Biochem. 1979 Apr 15;94(2):287-96. doi: 10.1016/0003-2697(79)90362-2.
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