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Article

The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC).

Molecular genetics and metabolism - 1 May 2010

Iqbal Furhan, Item Chike B, Vilaseca Maria A, Jalan Anil, Mühl Adolf, Couce Maria L, Duat Ana, Delgado Maria P, Bosch Joaquim, Puche Alberto, Campistol Jaume, Pineda Mercè, Bodamer Olaf A

Abstract excerpt

Biotinidase deficiency (BD) is an autosomal recessive disorder of biotin metabolism that causes incomplete recycling of free biotin. The resulting depletion of intracellular biotin leads to impaired activities of biotin-dependent carboxylases. The ensuing clinical phenotype includes progressive n...

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Identifiers

PMID: 20083419
DOI: 10.1016/j.ymgme.2009.12.016

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20083419-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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