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

Arylsulfatase A pseudodeficiency incidence in Turkey.

The Turkish journal of pediatrics - 1 Jan 2000

Emre S, Topçu M, Terzioğlu M, Renda Y

Abstract excerpt

Pseudodeficiency (Pd) in arylsulfatase A (ASA) is a relatively frequent condition in healthy individuals. It produces a reduction in enzyme activity similar to that found in metachromatic leukodystrophy (MLD). A variable incidence of the Pd allele was found in different populations; it was 10-20 times higher than that of metachromatic leukodystrophy. Twelve of the 52 unrelated, healthy individuals were found to...

Read the complete abstract on PubMed

Topics

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

Share to Age Factors
Share to Cerebroside-Sulfatase
Share to Child

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

Share to Gene Frequency

Share to Genotype

Share to Leukodystrophy, Metachromatic

Share to Polymerase Chain Reaction

Share to Turkey

Source

Identifiers

PMID: 10936976

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

Arylsulfatase A pseudodeficiency incidence in Turkey.PMID 10936976Read ↗

Arylsulfatase A pseudodeficiency--incidence in Poland.Semantic proximity Read ↗

Prevalence of arylsulfatase A pseudodeficiency allele in metachromatic leukodystrophy patients from Poland.Semantic proximity Read ↗

Arylsulfatase A pseudodeficiency in healthy Brazilian individuals.Semantic proximity Read ↗

Determination of arylsulfatase A pseudodeficiency allele and haplotype frequency in the Tunisian population.Semantic proximity Read ↗

Frequency of the arylsulphatase A pseudodeficiency allele in the Spanish population.Semantic proximity Read ↗

Arylsulfatase A pseudodeficiency: a common polymorphism which is associated with a unique haplotype.Semantic proximity Read ↗

Arylsulfatase A pseudodeficiency in Mexico: Enzymatic activity and haplotype analysis.Semantic proximity Read ↗

Frequency of arylsulphatase A pseudodeficiency associated mutations in a healthy population.Semantic proximity Read ↗

Molecular genetics of metachromatic leukodystrophy.Semantic proximity Read ↗

Arylsulfatase A pseudodeficiency-associated mutations: population studies and identification of a novel haplotype.Semantic proximity Read ↗

An unusual arylsulfatase A pseudodeficiency allele carrying a splice site mutation in a metachromatic leukodystrophy patient.Semantic proximity Read ↗

Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity.Semantic proximity Read ↗

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