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, Ana Margalha (author)
Outros Autores: Ezequiel, Marta (author), Luís, Catarina (author), Dupont, Juliette (author), Gaspar, Paulo (author), Vilarinho, Laura (author), Janeiro, Patrícia (author), Gaspar, Ana (author)
Formato: article
Idioma:eng
Publicado em: 2020
Assuntos:
Coarse facies
developmental regression
Gangliosidosis
hypotonia
lysosomal storage disease
Texto completo:http://hdl.handle.net/10400.16/2420
País:Portugal
Oai:oai:repositorio.chporto.pt:10400.16/2420

Texto Completo

http://hdl.handle.net/10400.16/2420

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