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

Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype:phenotype correlation.

Journal of medical genetics - 1 Jun 2000

Sargent C A, Kidd A, Moore S, Dean J, Besley G T, Affara N A

Abstract excerpt

Little is understood of the genotype/phenotype correlations in X linked glycerol kinase deficiency (GKD) where most cases are caused by extensive deletions of Xp21, which often include genes flanking the GK locus. Few cases of isolated GKD have been investigated where the phenotype is not influenced by neighbouring genes. In this paper, we present the mutation data from four confirmed and one suspected case of...

Read the complete abstract on PubMed

Topics

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

Share to Consanguinity
Share to Diseases in Twins

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

Share to DNA Mutational Analysis

Share to Genetic Linkage

Share to Polymorphism, Single-Stranded Conformational

Share to Reverse Transcriptase Polymerase Chain Reaction

Share to X Chromosome

Source

Open in PubMed Open full text

Identifiers

PMID: 10851254
DOI: 10.1136/jmg.37.6.434
PMCID: PMC1734616

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

Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype:phenotype correlation.PMID 10851254Read ↗

Mutations and phenotype in isolated glycerol kinase deficiency.Semantic proximity Read ↗

Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency.Semantic proximity Read ↗

Isolated and contiguous glycerol kinase gene disorders: a review.Semantic proximity Read ↗

Glycerol kinase deficiency: evidence for complexity in a single gene disorder.Semantic proximity Read ↗

Clinical heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency: investigation of two splice site mutations with computerized splice junction analysis and Xp21 gene-specific mRNA analysis.Semantic proximity Read ↗

Glycerol metabolism and the determination of triglycerides--clinical, biochemical and molecular findings in six subjects.Semantic proximity Read ↗

Recurrent episodes of myoglobinuria, mental retardation and seizures but no hemolysis in two brothers with phosphoglycerate kinase deficiency.Semantic proximity Read ↗

Two cases of isolated glycerol kinase deficiency with heterogeneous neurological symptoms.Semantic proximity Read ↗

Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene.Semantic proximity Read ↗

Glycerol kinase deficiency: follow-up during 20 years, genetics, biochemistry and prognosis.Semantic proximity Read ↗

A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia.Semantic proximity Read ↗

Asymptomatic isolated human glycerol kinase deficiency associated with splice-site mutations and nonsense-mediated decay of mutant RNA.Semantic proximity Read ↗

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