Cathepsin A Deficiency in Galactosialidosis: Studies of Patients and Carriers in 16 Families-Reference-Cited by-同舟云学术

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Cathepsin A Deficiency in Galactosialidosis: Studies of Patients and Carriers in 16 Families

Published:1996-06 Issue:6 Volume:39 Page:1067-1071
ISSN:0031-3998
Container-title:Pediatric Research
language:
Short-container-title:Pediatr Res

Author:

Kleijer W J,Geilen G C,Janse H C,Van Diggelen O P,Zhou Xiao Yan,Galjart N J,Galjaard H,D'azzo A

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Reference32 articles.

1. Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.

2. Expression of cDNA encoding the human “protective protein≓ associated with lysosomal β-galactosidase and neuraminidase: Homology to yeast proteases

3. Purification of acid β-galactosidase and acid neuraminidase from bovine testis: Evidence for an enzyme complex

4. The relation between human lysosomal beta-galactosidase and its protective protein.

Cited by 30 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. In silico insights into procathepsin S maturation mediated by glycosaminoglycans;Journal of Molecular Graphics and Modelling;2023-05

2. Galactosialidosis (GSL);Genetic Syndromes;2023

3. Infantile Galactosialidosis with Novel Mutation: An Early Presentation;Journal of Pediatric Genetics;2021-07-29

4. Prenatal Diagnosis of Disorders of Lipid Metabolism;Genetic Disorders and the Fetus;2021-04-20

5. Juvenile/adult‐onset galactosialidosis with remarkable clinical variabilities in two Japanese siblings;Neurology and Clinical Neuroscience;2019-04-14

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