COARSE FACE, HYPOTONIA, AND NEURODEVELOPMENTAL REGRESSION

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 un...

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Detalhes bibliográficos
Autor principal: Miranda, A (author)
Outros Autores: Ezequiel, M (author), Luis, C (author), DupontI, J (author), GasparII, P (author), Vilarinho, L, et al. (author)
Formato: article
Idioma:eng
Publicado em: 2020
Assuntos:
Texto completo:http://hdl.handle.net/10400.10/2500
País:Portugal
Oai:oai:repositorio.hff.min-saude.pt:10400.10/2500