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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 Hungary were screened for biotinidase deficiency in the Budapest Screening Centre between 1989 and December 2008. In this...

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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 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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