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Article

Cathepsin A deficiency in galactosialidosis: studies of patients and carriers in 16 families.

Pediatric research - 1 Jun 1996

Kleijer W J, Geilen G C, Janse H C, van Diggelen O P, Zhou X Y, Galjart N J, Galjaard H, d'Azzo A

Abstract excerpt

Deficiency of lysosomal protective protein/cathepsin A in humans is the primary cause of galactosialidosis, a lysosomal storage disease characterized by combined deficiency of beta-galactosidase and neuraminidase. We have investigated 20 galactosialidosis patients and nine of their obligate heterozygous parents. A group of 12 patients with the early infantile type of the disease exhibited practically complete...

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Identifiers

PMID: 8725271
DOI: 10.1203/00006450-199606000-00022

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Cathepsin A deficiency in galactosialidosis: studies of patients and carriers in 16 families.PMID 8725271Read ↗

Molecular pathology of galactosialidosis in a patient affected with two new frameshift mutations in the cathepsin A/protective protein gene.Semantic proximity Read ↗

Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis.Semantic proximity Read ↗

Cathepsin A/protective protein: an unusual lysosomal multifunctional protein.Semantic proximity Read ↗

Protective protein/cathepsin A loss in cultured cells derived from an early-infantile form of galactosialidosis patients homozygous for the A1184-G transition (Y395C mutation).Semantic proximity Read ↗

A Turkish case of galactosialidosis with a new homozygous mutation in CTSA gene.Semantic proximity Read ↗

A case of galactosialidosis with novel mutations of the protective protein/cathepsin a gene: diagnosis prompted by trophoblast vacuolization on placental examination.Semantic proximity Read ↗

A mutation in a mild form of galactosialidosis impairs dimerization of the protective protein and renders it unstable.Semantic proximity Read ↗

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Galactosialidosis: review and analysis of CTSA gene mutations.Semantic proximity Read ↗

Quantitative natural history characterization in a cohort of 142 published cases of patients with galactosialidosis—A cross‐sectional studySemantic proximity Read ↗

Chemical chaperone treatment for galactosialidosis: Effect of NOEV on β-galactosidase activities in fibroblasts.Semantic proximity Read ↗

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