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

Identification of novel mutations in classical galactosemia.

Human mutation - 1 May 2005

Bosch Annet M, Ijlst Lodewijk, Oostheim Wendy, Mulders Joyce, Bakker Henk D, Wijburg Frits A, Wanders Ronald J A, Waterham Hans R

Abstract excerpt

Classical galactosemia is an autosomal recessive disorder of galactose metabolism due to galactose-1-phosphate uridyltransferase (GALT) deficiency. Treatment through restriction of dietary galactose intake is lifesaving, but, in spite of this diet, most patients develop abnormalities. In this paper we report the mutational spectrum of classical galactosemia in a cohort of 123 Dutch patients, all with...

Read the complete abstract on PubMed

Topics

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

Share to Netherlands
Share to UTP-Hexose-1-Phosphate Uridylyltransferase

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

Share to Base Sequence

Share to Galactosemias

Share to Gene Frequency

Share to GALT gene

Share to Molecular Sequence Data

Share to Mutation

Source

Identifiers

PMID: 15841485
DOI: 10.1002/humu.9330

Genes

GALT

Variants

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

Identification of novel mutations in classical galactosemia.PMID 15841485Read ↗

A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal.Semantic proximity Read ↗

Classic Galactosemia: Clinical and Computational Characterization of a Novel GALT Missense Variant (p.A303D) and a Literature Review.Semantic proximity Read ↗

A case report of classic galactosemia with a GALT gene variant and a literature review.Semantic proximity Read ↗

Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations.Semantic proximity Read ↗

Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with galactosemia, including a novel mutation of F294Y. Mutation in brief no. 235. Online.Semantic proximity Read ↗

Novel GALT variations and genetic spectrum in Turkish population with the correlation of genotype and phenotype.Semantic proximity Read ↗

Novel GALT variations and mutation spectrum in the Korean population with decreased galactose-1-phosphate uridyltransferase activity.Semantic proximity Read ↗

Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene.Semantic proximity Read ↗

Two Lithuanian Cases of Classical Galactosemia with a Literature Review: A Novel GALT Gene Mutation Identified.Semantic proximity Read ↗

Mutational spectrum of classical galactosaemia in Spain and Portugal.Semantic proximity Read ↗

Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.Semantic proximity Read ↗

Molecular basis and clinical presentation of classic galactosemia in a Croatian population.Semantic proximity Read ↗

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