Marilis T. Lara

Publications2
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Citations11
Highly Influential Citations1
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High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil.
TLDR
The incidence of biotinidase deficiency in newborn screening in Minas Gerais was higher than several international studies, and oral daily biotin apparently precluded clinical symptoms, but it may be unnecessary in some newborns.
Biotinidase deficiency: clinical and diagnosis aspects and neonatal screening
TLDR
Biotinidase deficiency meets the World Health Organization criteria for neonatal screening because carriers are asymptomatic during this period of life, the disease’s high morbidity rate, and effective treatment with low cost.