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Coarse face, hypotonia, and neurodevelopmental regression

Miranda, Ana Margalha; Ezequiel, Marta; Luís, Catarina; Dupont, Juliette; Gaspar, Paulo; Vilarinho, Laura; Janeiro, Patrícia; Gaspar, Ana

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: NASCER E CRESCER - BIRTH AND GROWTH MEDICAL JOURNAL
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Coarse face, hypotonia, and neurodevelopmental regression

Miranda, Ana Margalha; Ezequiel, Marta; Luís, Catarina; Dupont, Juliette; Gaspar, Paulo; Vilarinho, Laura; Janeiro, Patrícia; Gaspar, Ana

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 Científico da Unidade Local de Saúde de Santo António (ULSSA)
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