Beta-galactosidases in fibroblasts: Hurler and Sanfilippo syndromes.
作者信息
Benson P F, Bowser-Riley F, Giannelli F
出版信息
N Engl J Med. 1970 Oct 29;283(18):999-1000. doi: 10.1056/nejm197010292831818.
PMID:4248669
Abstract
摘要
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Beta-galactosidases in fibroblasts: Hurler and Sanfilippo syndromes.成纤维细胞中的β-半乳糖苷酶：胡勒氏综合征和桑菲利波综合征。
N Engl J Med. 1970 Oct 29;283(18):999-1000. doi: 10.1056/nejm197010292831818.
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Hurler's syndrome, an -L-iduronidase deficiency.胡勒综合征，一种α-L-艾杜糖醛酸酶缺乏症。
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Acid glycosidases in mucopolysaccharidoses fibroblasts.黏多糖贮积症成纤维细胞中的酸性糖苷酶
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Simple method for cutting transverse sections of hair. Comments on shape of hair in Hurler and Sanfilippo syndromes.切割毛发横切片的简单方法。关于黏多糖贮积症Ⅰ型和Ⅲ型中毛发形状的评论。
Arch Dis Child. 1971 Jun;46(247):383-6. doi: 10.1136/adc.46.247.383.
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-Galactosidase, N-acetyl- -glucosaminidase, and -glucuronidase activity in fibroblast cultures from patients with mucopolysaccharide storage disease.黏多糖贮积症患者成纤维细胞培养物中的β-半乳糖苷酶、N-乙酰-β-氨基葡萄糖苷酶和β-葡萄糖醛酸酶活性
Biochem Med. 1973 Jun;7(3):343-9. doi: 10.1016/0006-2944(73)90055-0.
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The sanfilippo B corrective factor: a N-acetyl-alpha-D-glucosamindiase.桑菲利波B校正因子：一种N-乙酰-α-D-氨基葡糖苷酶。
Biochem Biophys Res Commun. 1972 Jul 25;48(2):262-9. doi: 10.1016/s0006-291x(72)80044-5.
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Enzyme patterns in tissues and body fluids in mucopolysaccharidoses.黏多糖贮积症中组织和体液的酶谱。
Clin Chim Acta. 1969 Jul;25(1):97-102. doi: 10.1016/0009-8981(69)90233-2.
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Deficiency of lysosomal enzymes in storage diseases.贮积病中溶酶体酶的缺乏。
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Sanfilippo disease type B: enzyme replacement and metabolic correction in cultured fibroblasts.B型Sanfilippo病：培养成纤维细胞中的酶替代和代谢纠正
Science. 1973 Aug 24;181(4101):753-5. doi: 10.1126/science.181.4101.753.
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Antenatal detection of genetic enzyme defects.产前基因酶缺陷检测。
Proc R Soc Med. 1971 Nov;64(11):1137-9. doi: 10.1177/003591577106401109.
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The mucopolysaccharidoses.黏多糖贮积症
J Med Genet. 1976 Jun;13(3):169-81. doi: 10.1136/jmg.13.3.169.
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