Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society - 1 Jan 2000

Kostadinov Stefan, Shah Birju A, Alroy Joseph, Phornphutkul Chanika

Abstract excerpt

Galactosialidosis (GS) is a rare autosomal recessive lysosomal storage disease caused by a combined deficiency of lysosomal β-galactosidase and neuraminidase as a result of a genetic defect in the protective protein/cathepsin A gene. We report a case of unsuspected fetal galactosialidosis presenting as severe intrauterine growth restriction and oligohydramnios prenatally and as hyperinsulinemic hypoglycemia in...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Biopsy
Share to Cathepsin A

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Infant, Newborn

Share to Lysosomal Storage Diseases

Share to Microscopy, Electron

Share to Trophoblasts

Share to Vacuoles

Source

Identifiers

PMID: 25075748
DOI: 10.2350/14-05-1500-CR.1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A case of galactosialidosis with novel mutations of the protective protein/cathepsin a gene: diagnosis prompted by trophoblast vacuolization on placental examination.PMID 25075748Read ↗

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

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

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

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

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

Prenatal enzymatic diagnosis of lysosomal storage diseases using cultured amniotic cells, uncultured chorionic villus samples, and fetal blood cells: Hacettepe experienceSemantic proximity Read ↗

Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero.Semantic proximity Read ↗

Galactosialidosis: review and analysis of CTSA gene mutations.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 ↗

[Galactosialidosis: a new "de novo" mutation in CTSA gene in a patient with late infantile galactosialidosis].Semantic proximity Read ↗

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

Disorders of glycoprotein degradation.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.