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Article

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

Journal of pediatric endocrinology & metabolism : JPEM - 28 Mar 2018

Seker Yilmaz Berna, Mungan Neslihan Onenli, Kor Deniz, Bulut Derya, Seydaoglu Gülşah, Öktem Murat, Ceylaner Serdar

Abstract excerpt

BACKGROUND: Biotinidase deficiency (BD) is an autosomal recessive inborn error of metabolism characterized by neurologic and cutaneous symptoms and can be detected by newborn screening. Newborn screening for BD was implemented in Turkey at the end of 2008. METHODS: In total, 203 patients who were identified among the infants detected by the newborn screening were later confirmed to have BD through measurement of...

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Identifiers

PMID: 29353266
DOI: 10.1515/jpem-2017-0406

Genes

BTD

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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