桑菲利波B病：三个家族中纯合子和杂合子个体检测的血清学分析 - Suppr

Suppr

超能文献

Sanfilippo B disease: serum assays for detection of homozygous and heterozygous individuals in three families.

作者信息

von Figura K, Lögering M, Mersmann G, Kresse H

出版信息

J Pediatr. 1973 Oct;83(4):607-11. doi: 10.1016/s0022-3476(73)80222-7.

DOI:10.1016/s0022-3476(73)80222-7

PMID:4269738

Abstract

摘要

相似文献

Sanfilippo B disease: serum assays for detection of homozygous and heterozygous individuals in three families.

J Pediatr. 1973 Oct;83(4):607-11. doi: 10.1016/s0022-3476(73)80222-7.

Acid hydrolases in the serum and liver in mucopolysaccharidoses types I and 3.

Clin Biochem. 1970 Sep;3(3):193-202.

Leukocyte hydrolases in the Sanfilippo syndrome.

Clin Biochem. 1971 Apr;4(1):45-8. doi: 10.1016/s0009-9120(71)90470-x.

The sanfilippo B corrective factor: a N-acetyl-alpha-D-glucosamindiase.

Biochem Biophys Res Commun. 1972 Jul 25;48(2):262-9. doi: 10.1016/s0006-291x(72)80044-5.

Sanfilippo disease type B: enzyme replacement and metabolic correction in cultured fibroblasts.

Science. 1973 Aug 24;181(4101):753-5. doi: 10.1126/science.181.4101.753.

Beta-galactosidases in fibroblasts: Hurler and Sanfilippo syndromes.

N Engl J Med. 1970 Oct 29;283(18):999-1000. doi: 10.1056/nejm197010292831818.

Sanfilippo syndrome (mucopolysaccharidosis 3).

Indian J Med Res. 1970 Aug;58(8):1073-8.

Brain glycosaminoglycans and glycosaminoglycan sulphotransferase in Sanfilippo syndrome.

Clin Chim Acta. 1970 Nov;30(2):317-24. doi: 10.1016/0009-8981(70)90119-1.

Deficiency of lysosomal enzymes in storage diseases.

Biochem Med. 1973 Jun;7(3):441-51. doi: 10.1016/0006-2944(73)90065-3.

-Galactosidase, N-acetyl- -glucosaminidase, and -glucuronidase activity in fibroblast cultures from patients with mucopolysaccharide storage disease.

Biochem Med. 1973 Jun;7(3):343-9. doi: 10.1016/0006-2944(73)90055-0.

引用本文的文献

Prenatal diagnosis of Sanfilippo disease type B.

Hum Genet. 1984;66(4):287-8. doi: 10.1007/BF00287628.

Sanfilippo B syndrome (MPS III B): case report with analysis of CSF mucopolysaccharides and conjunctival biopsy.

J Neurol. 1981;225(2):77-83. doi: 10.1007/BF00313321.

Quantitative aspects of pinocytosis and the intracellular fate of N-acetyl-alpha-D-glucosaminidase in Sanfilippo B fibroblasts.

J Clin Invest. 1974 Jan;53(1):85-90. doi: 10.1172/JCI107563.

The mucopolysaccharidoses: inborn errors of glycosaminoglycan catabolism.

Hum Genet. 1976 Jun 29;32(3):233-55. doi: 10.1007/BF00295816.

The mucopolysaccharidoses.

J Med Genet. 1976 Jun;13(3):169-81. doi: 10.1136/jmg.13.3.169.

A review and selection of simple laboratory methods used for the study of glycosaminoglycan excretion and the diagnosis of the mucopolysaccharidoses.

J Clin Pathol. 1976 Feb;29(2):111-23. doi: 10.1136/jcp.29.2.111.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验