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Article

Familial globotriaosylceramide-associated cardiomyopathy mimicking Fabry disease.

Heart (British Cardiac Society) - 1 Nov 2014

Apelland Turid, Gude Einar, Strøm Erik H, Gullestad Lars, Eiklid Kristin L, Månsson Jan-Eric, Reinholt Finn P, Houge Gunnar, Dahl Christen P, Almaas Vibeke M, Heiberg Arvid

Abstract excerpt

OBJECTIVE: To characterise a globotriaosylceramide (Gb3) storage cardiomyopathy mimicking Fabry. METHODS: We investigated five patients from two unrelated families with early adult onset unexplained left ventricular hypertrophy. Endomyocardial biopsy was performed in all patients and diagnostic kidney biopsies in two of them. We measured α-galactosidase A activity in all patients. Three patients were checked for...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25031264
DOI: 10.1136/heartjnl-2014-305616

Genes

LAMP1
LAMP2

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.

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