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Article

Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.

PloS one - 1 Jan 2017

Borsatto Taciane, Sperb-Ludwig Fernanda, Lima Samyra E, S Carvalho Maria R, S Fonseca Pablo A, S Camelo José, M Ribeiro Erlane, F V de Medeiros Paula, M Lourenço Charles, F M de Souza Carolina, Boy Raquel, Félix Têmis M, M Bittar Camila, L C Pinto Louise, C Neto Eurico, J Blom Henk, D Schwartz Ida V

Abstract excerpt

INTRODUCTION: The association between the BTD genotype and biochemical phenotype [profound biotinidase deficiency (BD), partial BD or heterozygous activity] is not always consistent. This study aimed to investigate the genotype-biochemical phenotype association in patients with low biotinidase activity. METHODS: All exons, the 5'UTR and the promoter of the BTD gene were sequenced in 72 Brazilian individuals who...

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Source

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Identifiers

PMID: 28498829
DOI: 10.1371/journal.pone.0177503
PMCID: PMC5428951

Genes

BTD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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