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Article

High frequencies of biotinidase (BTD) gene mutations in the Hungarian population.

Journal of inherited metabolic disease - 1 Dec 2010

Milánkovics Ilona, Németh Krisztina, Somogyi Csilla, Schuler Agnes, Fekete György

Abstract excerpt

Biotinidase deficiency, an autosomal recessively inherited disorder, is characterized by neurologic and cutaneous symptoms and can be detected by newborn screening. In Hungary the national screening programme was launched in 1989 with two screening centres. Over 1,070,000 neonates from western Hu...

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Source

Identifiers

PMID: 20549359
DOI: 10.1007/s10545-010-9152-0

Genes

BTD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20549359-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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