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COARSE FACE, HYPOTONIA, AND NEURODEVELOPMENTAL REGRESSION

Miranda, A; Ezequiel, M; Luis, C; DupontI, J; GasparII, P; Vilarinho, L, et al.

Inborn errors of metabolism are a heterogeneous class of multisystemic diseases which, although individually rare, are collectively quite common. Central nervous system is usually affected. The authors report the case of a five-month-old girl, daughter of non-consanguineous parents, born after an unremarkable full-term pregnancy and delivery. Hypotonia and neurodevelopmental regression were noted from the age o...

Date: 2020   |   Origin: Repositório do Hospital Prof. Doutor Fernando Fonseca
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