Complications in the genotypic molecular diagnosis of pseudo arylsulfatase A deficiency-Reference-Cited by-同舟云学术

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Complications in the genotypic molecular diagnosis of pseudo arylsulfatase A deficiency

Published:1993-03-01 Issue:5 Volume:45 Page:631-637
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Shen Ning,Li Zhen-Guo,Waye John S.,Francis Gordon,Chang Patricia L.

Publisher

Wiley

Subject

Genetics(clinical)

Reference34 articles.

1. Deficient glycosylation of arylsulfatase A in pseudo arylsulfatase-A deficiency

2. Abnormal Sulphatase Activities in Two Human Diseases (Metachromatic Leucodystrophy and Gargoylism)

3. Pseudodeficiency of arylsulfatase A: a counseling dilemma

4. The assay of arylsulphatases A and B in human urine

Cited by 25 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Complex genotypes in family with metachromatic leukodystrophy: Effect of trans and cis mutations distribution on the phenotype variability;International Journal of Developmental Neuroscience;2023-10-17

2. Metachromatic Leukodystrophy and Globoid Cell Leukodystrophy;Lysosomal Storage Disorders;2022-07-21

3. Extremely low arylsulfatase A enzyme activity does not necessarily cause symptoms: A long‐term follow‐up and review of the literature;JIMD Reports;2022-05-04

4. Arylsulfatase A pseudodeficiency in Mexico: Enzymatic activity and haplotype analysis;Molecular Genetics & Genomic Medicine;2020-05-19

5. Effects of glycosylation and pH conditions in the dynamics of human arylsulfatase A;Journal of Biomolecular Structure and Dynamics;2013-04-13

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