Hunter's syndrome: beta-galactosidase deficiency in skin.
作者信息
Gerich J E
出版信息
N Engl J Med. 1969 Apr 10;280(15):799-802. doi: 10.1056/NEJM196904102801502.
PMID:4975290
Abstract
摘要
相似文献
1
Hunter's syndrome: beta-galactosidase deficiency in skin.亨特综合征：皮肤中β-半乳糖苷酶缺乏。
N Engl J Med. 1969 Apr 10;280(15):799-802. doi: 10.1056/NEJM196904102801502.
2
Mucopolysaccharidosis II (Hunter's syndrome).黏多糖贮积症II型（亨特综合征）。
Arch Dermatol. 1970 Nov;102(5):578-80. doi: 10.1001/archderm.102.5.578.
3
Glycosidases in skin and plasma in Hunter's syndrome. Abnormality of a beta-galactosidase in skin.亨特综合征患者皮肤和血浆中的糖苷酶。皮肤中β-半乳糖苷酶异常。
Acta Paediatr Scand. 1968 Jul;57(4):281-4. doi: 10.1111/j.1651-2227.1968.tb07292.x.
4
Inefficacy of fresh frozen plasma therapy of mucopolysaccharidosis II.黏多糖贮积症II型新鲜冷冻血浆疗法的无效性
Pediatrics. 1972 Nov;50(5):693-701.
5
[Familial cases of Hunter's syndrome].[亨特综合征的家族性病例]
Nihon Rinsho. 1973 Aug 10;31(8):2606-9.
6
Hunter's syndrome: a deficiency of L-idurono-sulfate sulfatase.亨特综合征：艾杜糖醛酸-2-硫酸酯酶缺乏症。
Biochem Biophys Res Commun. 1973 Oct 1;54(3):1125-32. doi: 10.1016/0006-291x(73)90809-7.
7
[Hunter's disease: study of a family from the plain of Paestum].
Acta Neurol (Napoli). 1973 May-Jun;28(3):323-49.
8
Demonstration of the heterozygous state in Hunter's syndrome.亨特综合征杂合状态的证明。
Pediatrics. 1974 Mar;53(3):396-9.
9
In vitro restoration of deficient beta-galactosidase activity in liver of patients with Hurler and Hunter disease.在患有Hurler和Hunter病患者的肝脏中体外恢复缺乏的β-半乳糖苷酶活性。
Nature. 1974 Aug 2;250(465):424-5. doi: 10.1038/250424a0.
10
[Unusual findings in 2 patients with Hunter's disease].[2例亨廷顿病患者的异常发现]
Dtsch Gesundheitsw. 1970 Jan 16;25(2):78-82.
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A syndrome of severe mental retardation, spasticity, and tapetoretinal degeneration linked to chromosome 15q24.一种与15号染色体q24区域相关的严重智力发育迟缓、痉挛和视网膜色素变性综合征。
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Progress in birth defects research.出生缺陷研究进展
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Abnormal arylsulphatase activities of fibroblasts cultured from patients with mucopolysaccharidosis and cystinosis.黏多糖贮积症和胱氨酸病患者培养的成纤维细胞的芳基硫酸酯酶活性异常。
Z Kinderheilkd. 1971;110(4):324-31. doi: 10.1007/BF00440191.
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The defect in Hurler and Hunter syndromes. II. Deficiency of specific factors involved in mucopolysaccharide degradation.黏多糖贮积症Ⅰ型和Ⅱ型中的缺陷。Ⅱ. 黏多糖降解中特定因子的缺乏。
Proc Natl Acad Sci U S A. 1969 Sep;64(1):360-6. doi: 10.1073/pnas.64.1.360.
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