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

Evidence for linkage of human primary systemic carnitine deficiency with D5S436: a novel gene locus on chromosome 5q.

American journal of human genetics - 1 Jul 1998

Shoji Y, Koizumi A, Kayo T, Ohata T, Takahashi T, Harada K, Takada G

Abstract excerpt

Primary systemic carnitine deficiency (SCD) is a rare hereditary disorder transmitted by an autosomal recessive mode of inheritance. The disorder includes cardiomyopathy, muscle weakness, hypoketotic coma with hypoglycemia, and hyperammonemia. In this study, we conducted a linkage analysis of a Japanese SCD family with a proband-a 9-year-old girl-and 26 members. The serum and urinary carnitine levels were...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Genes, Dominant
Share to Genetic Linkage

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

Share to Haplotypes

Share to Heterozygote

Share to Pedigree

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 9634512
DOI: 10.1086/301911
PMCID: PMC1377235

Genes

SCD

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Evidence for linkage of human primary systemic carnitine deficiency with D5S436: a novel gene locus on chromosome 5q.PMID 9634512Read ↗

Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and managementSemantic proximity Read ↗

The global prevalence and genetic spectrum of primary carnitine deficiencySemantic proximity Read ↗

A novel pathogenic variant in the carnitine transporter gene, SLC22A5, in association with metabolic carnitine deficiency and cardiomyopathy features.Semantic proximity Read ↗

Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter.Semantic proximity Read ↗

Clinical features and genotyping of patients with primary carnitine deficiency identified by newborn screening.Semantic proximity Read ↗

The global prevalence and genetic spectrum of primary carnitine deficiencySemantic proximity Read ↗

Primary carnitine deficiency: Estimation of prevalence in Chinese population and insights into newborn screeningSemantic proximity Read ↗

Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects.Semantic proximity Read ↗

[Genetics and pedigree analysis of primary carnitine deficiency cardiomyopathy in 6 cases].Semantic proximity Read ↗

SLC22A5 Mutations in a Patient With Systemic Primary Carnitine Deficiency and Cleft Palate-Successful Perioperative Management.Semantic proximity Read ↗

Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype.Semantic proximity Read ↗

Biochemical and genetic characteristics of 40 neonates with carnitine deficiency.Semantic proximity Read ↗

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