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Article

Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening.

European journal of pediatrics - 1 Aug 2015

Karaca Mehmet, Özgül Rıza Köksal, Ünal Özlem, Yücel-Yılmaz Didem, Kılıç Mustafa, Hişmi Burcu, Tokatlı Ayşegül, Coşkun Turgay, Dursun Ali, Sivri Hatice Serap

Abstract excerpt

UNLABELLED: The incidence of biotinidase deficiency in Turkey is currently one of the highest in the world. To expand upon the information about the biotinidase gene (BTD) variations in Turkish patients, we conducted a mutation screening in a large series (n = 210) of probands with biotinidase de...

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Identifiers

PMID: 25754625
DOI: 10.1007/s00431-015-2509-5

Genes

BTD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25754625-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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