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

Elevation of urinary globotriaosylceramide (GL3) in infants with Fabry disease.

Molecular genetics and metabolism - 1 Jan 2011

Chien Yin-Hsiu, Olivova Petra, Zhang Xiaokui Kate, Chiang Shu-Chuan, Lee Ni-Chung, Keutzer Joan, Hwu Wuh-Liang

Abstract excerpt

BACKGROUND: Fabry disease is caused by a deficiency of α-galactosidase A (α-Gal A), which results in the accumulation of globotriaosylceramide (GL3) and related glycosphingolipids in different organs. Urinary GL3 levels increase in symptomatic Fabry disease patients, but it is not clear whether urinary GL3 excretion also increases in young or pre-symptomatic patients. SUBJECTS AND METHODS: Eighty-nine newborns...

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, Liquid

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fabry Disease

Share to Follow-Up Studies

Share to Infant, Newborn

Share to Leukocytes

Share to Tandem Mass Spectrometry

Share to Trihexosylceramides

Source

Identifiers

PMID: 20864368
DOI: 10.1016/j.ymgme.2010.08.023

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

Elevation of urinary globotriaosylceramide (GL3) in infants with Fabry disease.PMID 20864368Read ↗

Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutation.Semantic proximity Read ↗

Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease.Semantic proximity Read ↗

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

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

Identification of Four New Mutations in the GLA Gene Associated with Anderson–Fabry DiseaseSemantic proximity Read ↗

Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial.Semantic proximity Read ↗

[Contribution of the measurement of globotriaosylceramide in urine to the diagnosis and follow-up of Fabry disease].Semantic proximity Read ↗

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

The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels.Semantic proximity Read ↗

Foot process effacement is an early marker of nephropathy in young classic Fabry patients without albuminuria.Semantic proximity Read ↗

High-Risk Screening for Fabry Disease: Analysis by Tandem Mass Spectrometry of Globotriaosylceramide (Gb3 ) in Urine Collected on Filter Paper.Semantic proximity Read ↗

Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis.Semantic proximity Read ↗

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