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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Bibliographic Details
Main Author: Miranda,Ana Margalha (author)
Other Authors: Ezequiel,Marta (author), Luís,Catarina (author), Dupont,Juliette (author), Gaspar,Paulo (author), Vilarinho,Laura (author), Janeiro,Patrícia (author), Gaspar,Ana (author)
Format: report
Language:eng
Published: 2020
Subjects:
Coarse facies
developmental regression
Gangliosidosis
hypotonia
lysosomal storage disease
Online Access:http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542020000200008
Country:Portugal
Oai:oai:scielo:S0872-07542020000200008

Internet

http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542020000200008

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