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

Investigations of micro-organic brain damage (MOBD) in heterozygotes of metachromatic leukodystrophy.

American journal of medical genetics - 15 Jul 2002

Tylki-Szymańska Anna, Ługowska Agnieszka, Chmielik Jolanta, Kotowicz Jerzy, Jakubowska-Winecka Anna, Zobel Marta, Berger Johannes, Molzer Brunhilde

Abstract excerpt

Potential damage of central and peripheral nervous system expressed as micro-organic brain damage (MOBD) was investigated in 27 unrelated heterozygotes with metachromatic leukodystrophy (MLD). Arylsulfatase A (ARSA) was determined in peripheral blood leukocytes and sulfatide excretion was estimated in 24-hour urine collections. Genomic DNA was analyzed for the ARSA pseudodeficiency (PD) allele by a PCR method....

Read the complete abstract on PubMed

Topics

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

Share to beta-Galactosidase
Share to Brain Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cerebroside-Sulfatase

Share to Gene Frequency

Share to Heterozygote

Share to Leukodystrophy, Metachromatic

Share to Neuropsychological Tests

Source

Identifiers

PMID: 12116203
DOI: 10.1002/ajmg.10369

Genes

ARSA

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

Investigations of micro-organic brain damage (MOBD) in heterozygotes of metachromatic leukodystrophy.PMID 12116203Read ↗

Motor and psycho-cognitive clinical types in adult metachromatic leukodystrophy: genotype/phenotype relationships?Semantic proximity Read ↗

Practical suggestions in diagnosing metachromatic leukodystrophy in probands and in testing family members.Semantic proximity Read ↗

Metachromatic Leukodystrophy – An UpdateSemantic proximity Read ↗

Compound heterozygosity for metachromatic leukodystrophy and arylsulfatase A pseudodeficiency alleles is not associated with progressive neurological disease.Semantic proximity Read ↗

[Metachromatic leucodystrophy. Clinical, biological, and therapeutic aspects].Semantic proximity Read ↗

Late onset MLD with normal nerve conduction associated with two novel missense mutations in the ASA gene.Semantic proximity Read ↗

Clinical, Biochemical, and Molecular Characterization of Metachromatic Leukodystrophy Among Egyptian Pediatric Patients: Expansion of the ARSA Mutational Spectrum.Semantic proximity Read ↗

Population carrier rates of pathogenic ARSA gene mutations: is metachromatic leukodystrophy underdiagnosed?Semantic proximity Read ↗

Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland.Semantic proximity Read ↗

Two siblings with metachromatic leukodystrophy caused by a novel identified homozygous mutation in the ARSA gene.Semantic proximity Read ↗

Adult-onset metachromatic leukodystrophy: a novel genotype with a distinct phenotype.Semantic proximity Read ↗

Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? - Chances and challenges.Semantic proximity Read ↗

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