Article

A Different Approach to the Evaluation of the Genotype-Phenotype Relationship in Biotinidase Deficiency: Repeated Measurement of Biotinidase Enzyme Activity

2023-07-14

Abstract excerpt

In the present study, we aimed to evaluate the genotype-phenotype relation in patients with biotinidase enzyme deficiency based on repeated biotinidase enzyme measurements. 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 first and repeated en...

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Literature Corpus work: eeebbef5-8daf-5bd5-8469-78d7355f6810
DOI: 10.21203/rs.3.rs-3141059/v1

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