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Article

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

The Turkish journal of pediatrics - 16 Nov 2024

Çıkı Kısmet, Alavanda Ceren, Ceylan Emine İpek, Tanyalçın Tijen, Kılavuz Sebile

Abstract excerpt

BACKGROUND: Biotin is a water-soluble vitamin that plays a key role in carboxylation. The formation of free biotin is impaired in biotinidase deficiency (BD), resulting in impaired biotin-dependent carboxylase functions. Based on the percentage of residual serum enzyme activity, BD is classified as partial and profound. METHODS: Retrospective data including gender, age, parental consanguinity, family history,...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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PMID: 39582447
DOI: 10.24953/turkjpediatr.2024.5075

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