Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population
ConclusionCorrect diagnosis lead to early treatment and accurate management of patient. Biochemical screening of BD in symptomatic child is prerequisite to determine enzyme status however molecular confirmation is vital in differentiating individuals with profound biotinidase deficiency from partial biotinidase deficiency and also individuals' carriers.
Source: Molecular Genetics and Metabolism Reports - Category: Genetics & Stem Cells Source Type: research
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