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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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Detalles Bibliográficos
Autores principales:	Mardhiah, M., Azize, Nor Azimah Abdul, Yakob, Yusnita, Affandi, O., Hock, Ngu Lock, Rowani, M.R., Habib, Anasufiza
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2019
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7144277/ https://www.ncbi.nlm.nih.gov/pubmed/32300527 http://dx.doi.org/10.1016/j.ymgmr.2019.100548

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