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Article

A different approach to the evaluation of the genotype-phenotype relationship in biotinidase deficiency: repeated measurement of biotinidase enzyme activity.

Journal of pediatric endocrinology & metabolism : JPEM - 27 Nov 2023

Sürücü Kara İlknur, Köse Engin, Koç Yekedüz Merve, Eminoğlu Fatma Tuba

Abstract excerpt

OBJECTIVES: In the present study, we aimed to evaluate the genotype-phenotype relation in patients with biotinidase enzyme deficiency based on repeated biotinidase enzyme measurements. METHODS: The hospital file information of patients with biotinidase, enzyme deficiency was assessed retrospectively, and the relationship between the BTD gene mutations analysis results and biotinidase enzyme activity following the...

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Identifiers

PMID: 37725148
DOI: 10.1515/jpem-2023-0337

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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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