Morquio-like syndrome (MPS IV B) associated with deficiency of a beta-galactosidase. - Suppr | 超能文献

Morquio-like syndrome (MPS IV B) associated with deficiency of a beta-galactosidase.

作者信息

Trojak J E, Ho C K, Roesel R A, Levin L S, Kopits S E, Thomas G H, Toma S

出版信息

Johns Hopkins Med J. 1980 Feb;146(2):75-9.

Abstract

摘要

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。

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

文档翻译

学术文献翻译模型，支持多种主流文档格式。

相似文献

1

Morquio-like syndrome (MPS IV B) associated with deficiency of a beta-galactosidase.

Johns Hopkins Med J. 1980 Feb;146(2):75-9.

2

Morquio-like syndrome with beta galactosidase deficiency and normal hexosamine sulfatase activity: mucopolysacchariodosis IVB.伴有β-半乳糖苷酶缺乏和正常氨基己糖硫酸酯酶活性的类黏多糖贮积症IV型：黏多糖贮积症IVB型

Am J Med Genet. 1977;1(2):195-205. doi: 10.1002/ajmg.1320010205.

3

Morquio B syndrome: a primary defect in beta-galactosidase.莫尔基奥B综合征：β-半乳糖苷酶的原发性缺陷。

Am J Med Genet. 1983 Oct;16(2):261-75. doi: 10.1002/ajmg.1320160215.

4

Beta galactosidase and the Morquio syndrome.β-半乳糖苷酶与莫尔基奥综合征。

Am J Med Genet. 1977;1(2):207-9. doi: 10.1002/ajmg.1320010206.

5

[Morquio syndrome moderated by beta galactosidase deficiency. Mucopolysaccharidosis (type IV B) or oligosaccharidosis].[由β-半乳糖苷酶缺乏引起的Morquio综合征。黏多糖贮积症（IV B型）或寡糖贮积症]

Ann Pediatr (Paris). 1983 Nov;30(9):681-6.

6

Morquio-B disease, spondyloepiphyseal dysplasia associated with acid beta-galactosidase deficiency. Report of three cases in one family.莫尔基奥B病，与酸性β-半乳糖苷酶缺乏相关的脊柱骨骺发育不良。一个家族中的三例报告。

Hum Genet. 1983;64(1):50-4. doi: 10.1007/BF00289478.

7

[An atypical form of spondyle-epiphyseal dysostosis (pseudo-Morquio)].

Fortschr Geb Rontgenstr Nuklearmed. 1970 Apr;112(4):510-4.

8

[Congenital spondyloepiphyseal dysplasia--an autosomal dominant hereditary skeletal dysplasia].

Arch Kinderheilkd. 1968 Sep;177(3):306-15.

9

[Roentgenographic findings in mucopolysaccharidosis iv (morquio disease)].

Radiologe. 1975 Aug;15(8):336-9.

10

Morquio syndrome (mucopolysaccharidosis IV B) associated with beta-galactosidase deficiency. Report of two cases.与β-半乳糖苷酶缺乏相关的Morquio综合征（黏多糖贮积症IV B型）。两例报告。

Am J Hum Genet. 1980 Mar;32(2):258-72.

引用本文的文献

1

Morquio-B disease: Clinical and genetic characteristics of a distinct -related dysostosis multiplex.黏多糖贮积症Ⅳ型B型：一种独特相关的多发性骨发育异常的临床和遗传特征

JIMD Rep. 2019 Nov 28;51(1):30-44. doi: 10.1002/jmd2.12065. eCollection 2020 Jan.

2

Morquio-B disease, spondyloepiphyseal dysplasia associated with acid beta-galactosidase deficiency. Report of three cases in one family.莫尔基奥B病，与酸性β-半乳糖苷酶缺乏相关的脊柱骨骺发育不良。一个家族中的三例报告。

Hum Genet. 1983;64(1):50-4. doi: 10.1007/BF00289478.

3

Juvenile neurogenic muscle atrophy with lysosomal enzyme deficiencies: new disease or variant of mucopolysaccharidosis?伴有溶酶体酶缺乏的青少年神经源性肌肉萎缩：新疾病还是黏多糖贮积症的变异型？

J Neurol. 1983;229(1):45-54. doi: 10.1007/BF00313495.

4

The lesions of an ovine lysosomal storage disease. Initial characterization.一种绵羊溶酶体贮积病的病变。初步特征描述。

Am J Pathol. 1989 Feb;134(2):263-70.