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 novel 6 bp insertion in exon 7 associated with an unusual phenotype in a family with Fabry disease.

Journal of inherited metabolic disease - 1 Dec 2002

Kroepfl Th, Paul K, Kotanko P, Plecko B, Paschke E

Abstract excerpt

A male patient presented with oligosymptomatic Fabry disease (end stage renal failure and non-obstructive cardiomyopathy) at around 30 years of age. His leukocyte alpha-galactosidase activity (alpha-gal) was 2.6% of controls. A 50-year-old sister had similar cardiac symptoms and her asymptomatic heterozygous daughter (33 years) had normal enzyme activity. All three patients carried a novel, 6bp insertion on exon...

Read the complete abstract on PubMed

Topics

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

Share to alpha-Galactosidase
Share to Exons
Share to Fabry Disease

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Leukocytes

Share to Mutation

Share to Phenotype

Source

Identifiers

PMID: 12705499
DOI: 10.1023/a:1022833332162

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel 6 bp insertion in exon 7 associated with an unusual phenotype in a family with Fabry disease.PMID 12705499Read ↗

Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease.Semantic proximity Read ↗

Early renal failure in childhood in a male with Fabry disease.Semantic proximity Read ↗

Clinical impact of the alpha-galactosidase A gene single nucleotide polymorphism -10C>T: A single-center observational study.Semantic proximity Read ↗

Remarkable variability in renal disease in a large Slovenian family with Fabry disease.Semantic proximity Read ↗

Late-onset and classic phenotypes of Fabry disease in males with the GLA-Thr410Ala mutation.Semantic proximity Read ↗

Late diagnosis of Fabry disease caused by a de novo mutation in a patient with end stage renal disease.Semantic proximity Read ↗

An intronic haplotype in α galactosidase A is associated with reduced mRNA expression in males with cryptogenic stroke.Semantic proximity Read ↗

Novel functional mutations of the galactosidase alpha (GLA) gene in Fabry disease.Semantic proximity Read ↗

Six novel mutations in the alpha-galactosidase A gene in families with Fabry disease.Semantic proximity Read ↗

A novel mutation (c. 1072_1074delGAG) in the alpha-galactosidase gene of a Taiwanese family with Fabry disease.Semantic proximity Read ↗

Novel trinucleotide deletion in Fabry's disease.Semantic proximity Read ↗

A novel alpha-galactosidase a mutant (M42L) identified in a renal variant of Fabry disease.Semantic proximity Read ↗

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