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

Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases.

Neurology - 26 Jan 2010

Mochel F, Engelke U F H, Barritault J, Yang B, McNeill N H, Thompson J N, Vanderver A, Wolf N I, Willemsen M A, Verheijen F W, Seguin F, Wevers R A, Schiffmann R

Abstract excerpt

OBJECTIVE: To investigate body fluids of patients with undiagnosed leukodystrophies using in vitro (1)H-NMR spectroscopy (H-NMRS). METHODS: We conducted a cross-sectional study using high-resolution in vitro H-NMRS on CSF and urine samples. RESULTS: We found a significant increase of free sialic acid in CSF or urine in 6 of 41 patients presenting with hypomyelination of unknown etiology. Molecular genetic testing...

Read the complete abstract on PubMed

Topics

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

Share to Cross-Sectional Studies
Share to Demyelinating Diseases

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

Share to Dipeptides

Share to Magnetic Resonance Imaging

Share to Magnetic Resonance Spectroscopy

Share to N-Acetylneuraminic Acid

Share to Organic Anion Transporters

Share to Symporters

Source

Open in PubMed Open full text

Identifiers

PMID: 20101035
DOI: 10.1212/WNL.0b013e3181cbcdc4
PMCID: PMC3122303

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

Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases.PMID 20101035Read ↗

Clinical and Genetic Characteristics of Free Sialic Acid Storage Disorder.Semantic proximity Read ↗

Novel form of intermediate salla disease: clinical and neuroimaging features.Semantic proximity Read ↗

A cross-sectional quantitative analysis of the natural history of free sialic acid storage disease-an ultra-orphan multisystemic lysosomal storage disorder.Semantic proximity Read ↗

Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage diseaseSemantic proximity Read ↗

Extremely low arylsulfatase A enzyme activity does not necessarily cause symptoms: A long‐term follow‐up and review of the literatureSemantic proximity Read ↗

Severe hypomyelination associated with increased levels of N-acetylaspartylglutamate in CSF.Semantic proximity Read ↗

Varied mechanisms underlie the free sialic acid storage disorders.Semantic proximity Read ↗

Free sialic acid storage (Salla) disease in Sweden.Semantic proximity Read ↗

The molecular mechanism of sialic acid transport mediated by Sialin.Semantic proximity Read ↗

Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children.Semantic proximity Read ↗

Unraveling the molecular pathogenesis of free sialic acid storage disorders: altered targeting of mutant sialin.Semantic proximity Read ↗

MR spectroscopic imaging of normal-appearing white matter in adrenoleukodystrophy.Semantic proximity Read ↗

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