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Article

Mutational analysis for biotinidase deficiency of a Greek patients' cohort ascertained through expanded newborn screening.

Journal of human genetics - 1 Dec 2011

Thodi Georgia, Molou Elina, Georgiou Vassiliki, Loukas Yannis L, Dotsikas Yannis, Biti Sofia, Papadopoulos Konstantinos, Konstantinou Dimitris, Antoniadi Marina, Doulgerakis Emmanuel

Abstract excerpt

Late-onset multiple carboxylase deficiency, also known as biotinidase (BTD) deficiency, is an autosomal recessively inherited disorder of biotin metabolism. Its early diagnosis and treatment seems that it can even fully prevent its various clinical manifestations. Mutations in the BTD gene scatte...

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Source

Identifiers

PMID: 22011816
DOI: 10.1038/jhg.2011.119

Genes

BTD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22011816-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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