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

Correlation of Lyso-Gb3 levels in dried blood spots and sera from patients with classic and Later-Onset Fabry disease.

Molecular genetics and metabolism - 1 Aug 2017

Nowak Albina, Mechtler Thomas, Kasper David C, Desnick Robert J

Abstract excerpt

BACKGROUND: Fabry disease (FD), an X-linked lysosomal storage disorder, results from the deficient activity of α-galactosidase A (α-Gal A) and the accumulation of its substrates, globotriaosylceramide (Gb3) and its deacylated derivative, globotriaosyl-sphingosine (Lyso-Gb3). Here, we compared the levels of Lyso-Gb3 in dried blood spots (DBS) and sera in affected males and heterozygotes with the "Classic" and...

Read the complete abstract on PubMed

Topics

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

Share to alpha-Galactosidase
Share to Chromatography, High Pressure Liquid

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromatography, Liquid

Share to Dried Blood Spot Testing

Share to Fabry Disease

Share to Glycolipids

Share to Sphingolipids

Share to Tandem Mass Spectrometry

Source

Identifiers

PMID: 28663131
DOI: 10.1016/j.ymgme.2017.06.006

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Correlation of Lyso-Gb3 levels in dried blood spots and sera from patients with classic and Later-Onset Fabry disease.PMID 28663131Read ↗

LysoGb3 quantification facilitates phenotypic categorization of Fabry disease patients: Insights gained by a novel MS/MS method.Semantic proximity Read ↗

Genotype, phenotype and disease severity reflected by serum LysoGb3 levels in patients with Fabry disease.Semantic proximity Read ↗

Plasma LysoGb3: A useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes.Semantic proximity Read ↗

Biomarkers in Anderson–Fabry DiseaseSemantic proximity Read ↗

Metabolic progression to clinical phenotype in classic Fabry disease.Semantic proximity Read ↗

Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease.Semantic proximity Read ↗

Detection of blood Gb3 deposits as a new tool for diagnosis and therapy monitoring in patients with classic Fabry disease.Semantic proximity Read ↗

α-Galactosidase A/lysoGb3 ratio as a potential marker for Fabry disease in females.Semantic proximity Read ↗

Accuracy diagnosis improvement of Fabry disease from dried blood spots: Enzyme activity, lyso-Gb3 accumulation and GLA gene sequencing.Semantic proximity Read ↗

Profiles of Globotriaosylsphingosine Analogs and Globotriaosylceramide Isoforms Accumulated in Body Fluids from Various Phenotypic Fabry Patients.Semantic proximity Read ↗

Globotriaosylsphingosine (lyso-Gb3) and analogues in plasma and urine of patients with Fabry disease and correlations with long-term treatment and genotypes in a nationwide female Danish cohort.Semantic proximity Read ↗

A simple method for quantification of plasma globotriaosylsphingosine: Utility for Fabry disease.Semantic proximity Read ↗

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