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Article

A Turkish case of galactosialidosis with a new homozygous mutation in CTSA gene.

Metabolic brain disease - 1 Aug 2017

Kartal Ayşe, Aydın Kürşad

Abstract excerpt

Galactosialidosis is an autosamal reressive lysosomal storage disease caused by a combined deficiency of lysosomal β-galactosidase and neuraminidase, due to a primary defect in protective protein/cathepsin A. Three subtypes are recognized: the early infantile type, the late infantile type, and the juvenile/adult type. We report here a female patient with early infantile galactosialidosis who was born at 35 weeks...

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Identifiers

PMID: 28555253
DOI: 10.1007/s11011-017-0042-0

Genes

CTSA

Provenance

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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A Turkish case of galactosialidosis with a new homozygous mutation in CTSA gene.PMID 28555253Read ↗

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