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

Mutations causing biotinidase deficiency in children ascertained by newborn screening in Western Hungary.

Molecular genetics and metabolism - 1 Mar 2007

Milánkovics Ilona, Kámory Eniko, Csókay Béla, Fodor Flóra, Somogyi Csilla, Schuler Agnes

Abstract excerpt

In Hungary the national newborn screening programme for the detection of biotinidase deficiency was launched in 1989. In this study, we determined the genotypes of all patients identified at the Budapest Screening Centre that covers half of the country. The incidence of the disorder in Western Hu...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Gene Frequency
Share to Genotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Germ-Line Mutation

Share to Hungary

Share to Infant, Newborn

Share to Mutation

Share to Neonatal Screening

Source

Identifiers

PMID: 17185019
DOI: 10.1016/j.ymgme.2006.11.005

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17185019-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations causing biotinidase deficiency in children ascertained by newborn screening in Western Hungary.PMID 17185019Read ↗

Neonatal screening for biotinidase deficiency in Hungary: clinical, biochemical and molecular studies.Semantic proximity Read ↗

High frequencies of biotinidase (BTD) gene mutations in the Hungarian population.Semantic proximity Read ↗

Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening.Semantic proximity Read ↗

Mutations in BTD gene causing biotinidase deficiency: a regional report.Semantic proximity Read ↗

Mutational analysis for biotinidase deficiency of a Greek patients' cohort ascertained through expanded newborn screening.Semantic proximity Read ↗

Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey.Semantic proximity Read ↗

Comprehensive analysis of genotypic and phenotypic characteristics of biotinidase deficiency patients in the eastern region of Türkiye.Semantic proximity Read ↗

Biotinidase deficiency: novel mutations in Algerian patients.Semantic proximity Read ↗

Molecular Background and Disease Prevalence of Biotinidase Deficiency in a Polish Population-Data Based on the National Newborn Screening Programme.Semantic proximity Read ↗

Profound biotinidase deficiency: a rare disease among native Swedes.Semantic proximity Read ↗

Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening.Semantic proximity Read ↗

Single center experience of biotinidase deficiency: 259 patients and six novel mutations.Semantic proximity Read ↗

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