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

Rapid detection of fetal Mendelian disorders: Tay-Sachs disease.

Methods in molecular biology (Clifton, N.J.) - 1 Jan 2008

Guetta Esther, Peleg Leah

Abstract excerpt

Tay-Sachs disease is an autosomal recessive storage disease caused by the impaired activity of the lysosomal enzyme hexosaminidase A. In this fatal disease, the sphingolipid GM2 ganglioside accumulates in the neurons. Due to high carrier rates and the severity of the disease, population screening and prenatal diagnosis of Tay-Sachs disease are routinely carried out in Israel. Laboratory diagnosis of Tay-Sachs is...

Read the complete abstract on PubMed

Topics

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

Share to Acetylglucosamine
Share to Amniocentesis
Share to Amniotic Fluid

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

Share to Biological Assay

Share to Chorionic Villi

Share to Chorionic Villi Sampling

Share to Fetal Blood

Share to Tay-Sachs Disease

Source

Identifiers

PMID: 18425478
DOI: 10.1007/978-1-59745-066-9_11

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

Rapid detection of fetal Mendelian disorders: Tay-Sachs disease.PMID 18425478Read ↗

The molecular basis of Tay-Sachs disease: mutation identification and diagnosis.Semantic proximity Read ↗

Prenatal enzymatic diagnosis of lysosomal storage diseases using cultured amniotic cells, uncultured chorionic villus samples, and fetal blood cells: Hacettepe experienceSemantic proximity Read ↗

Biochemistry and genetics of Tay-Sachs disease.Semantic proximity Read ↗

Rapid detection of fetal Mendelian disorders: thalassemia and sickle cell syndromes.Semantic proximity Read ↗

Diagnosis and molecular characterization of non-classic forms of Tay-Sachs disease in Brazil.Semantic proximity Read ↗

Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile Tay-Sachs disease. Expansion of the mutation spectrum.Semantic proximity Read ↗

Newborn Screening for Fabry Disease: Current Status of KnowledgeSemantic proximity Read ↗

Prenatal diagnosis of tay-sachs b1 variant in a maharashtrian family.Semantic proximity Read ↗

Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients.Semantic proximity Read ↗

Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population.Semantic proximity Read ↗

An inducible mouse model of late onset Tay-Sachs disease.Semantic proximity Read ↗

Novel HEXA variants in Korean children with Tay-Sachs disease with regression of neurodevelopment from infancy.Semantic proximity Read ↗

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