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

Haplotype analysis in prenatal diagnosis and carrier identification of Salla disease.

Journal of medical genetics - 1 Jan 1996

Schleutker J, Sistonen P, Aula P

Abstract excerpt

Salla disease (SD) is an autosomal recessive disorder in which free sialic acid (N-acetyl neuraminic acid) accumulates in lysosomes. A specific transport mechanism for acidic monosaccharides on the lysosomal membrane has recently been described, but the molecular deficiency causing SD is still unknown. We have previously mapped the SD gene to 6q14-q15 by means of genetic linkage analysis and restricted the...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Genetic Carrier Screening
Share to Haplotypes

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

Share to Infant, Newborn

Share to Pedigree

Share to Pregnancy

Share to Prenatal Diagnosis

Source

Open in PubMed Open full text

Identifiers

PMID: 8825046
DOI: 10.1136/jmg.33.1.36
PMCID: PMC1051809

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

Haplotype analysis in prenatal diagnosis and carrier identification of Salla disease.PMID 8825046Read ↗

Prenatal detection of free sialic acid storage disease: genetic and biochemical studies in nine families.Semantic proximity Read ↗

Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-q15.Semantic proximity Read ↗

Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero.Semantic proximity Read ↗

The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6.Semantic proximity Read ↗

Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs.Semantic proximity Read ↗

Longitudinal Characterization of the Clinical Course of Intermediate-Severe Salla Disease.Semantic proximity Read ↗

Lysosomal free sialic acid storage disorders with different phenotypic presentations--infantile-form sialic acid storage disease and Salla disease--represent allelic disorders on 6q14-15.Semantic proximity Read ↗

The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.Semantic proximity Read ↗

Phenotypic variation and magnetic resonance imaging (MRI) in Salla disease, a free sialic acid storage disorder.Semantic proximity Read ↗

Phenotypic spectrum of Salla disease, a free sialic acid storage disorder.Semantic proximity Read ↗

Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease.Semantic proximity Read ↗

A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.Semantic proximity Read ↗

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