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

Inherited metabolic disorders: prenatal diagnosis of lysosomal storage disorders

29 Jul 2015

Abstract excerpt

OBJECTIVE: To offer accurate prenatal diagnosis of lysosomal storage disorders in early pregnancy. METHOD: Prenatal enzymatic diagnoses of Gaucher, Fabry, Pompe, Niemann Pick A/B, Tay Sach, Sandoff, GM1, mucoplysaccharidoses, Wolman, Krabbe, Metachromatic leukodystrophy and Batten diseases were made in uncultured chorionic villi samples by fluorometric/spectrophotometric methods. RESULTS: Of 331 prenatal...

Read the complete abstract on PubMed

Topics

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

Share to Biomedical Research and Pathophysiology
Share to Infant Development and Preterm Care
Share to Lysosomal Storage Disorders Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 26223439
DOI: 10.1002/pd.4663

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Inherited metabolic disorders: prenatal diagnosis of lysosomal storage disordersPMID 26223439Read ↗

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

Prenatal diagnosis of lysosomal storage diseases.Semantic proximity Read ↗

Lysosomal storage disorders: molecular basis and laboratory testing.Semantic proximity Read ↗

Lysosomal storage diseases in non-immune hydrops fetalis pregnancies.Semantic proximity Read ↗

Lysosomal disorders.Semantic proximity Read ↗

Postnatal and prenatal diagnosis of lysosomal storage diseases in the former Soviet Union.Semantic proximity Read ↗

Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria.Semantic proximity Read ↗

Seven novel mutations of the SMPD1 gene in four Chinese patients with Niemann-Pick disease type A and prenatal diagnosis for four fetuses.Semantic proximity Read ↗

Hydrops Fetalis: Lysosomal Storage Disorders In ExtremisSemantic proximity Read ↗

A case of galactosialidosis with novel mutations of the protective protein/cathepsin a gene: diagnosis prompted by trophoblast vacuolization on placental examination.Semantic proximity Read ↗

Rapid detection of fetal Mendelian disorders: Tay-Sachs disease.Semantic proximity Read ↗

LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C diseaseSemantic proximity Read ↗

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