Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population

INTRODUCTION: Biotinidase deficiency (BD) is an autosomal recessively inherited disorder characterized by developmental delay, seizures, hypotonia, ataxia, skin rash/eczema, alopecia, conjunctivitis/visual problem/optic atrophy and metabolic acidosis. Delayed diagnosis may lead to irreversible neuro...

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Foilsithe in:Mol Genet Metab Rep
Main Authors: Mardhiah, M., Azize, Nor Azimah Abdul, Yakob, Yusnita, Affandi, O., Hock, Ngu Lock, Rowani, M.R., Habib, Anasufiza
Formáid: Artigo
Teanga:Inglês
Foilsithe: Elsevier 2019
Ábhair:
Case Report
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7144277/
https://ncbi.nlm.nih.gov/pubmed/32300527
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2019.100548
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