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, A (author)
Other Authors: Ezequiel, M (author), Luis, C (author), DupontI, J (author), GasparII, P (author), Vilarinho, L, et al. (author)
Format: article
Language:eng
Published: 2020
Subjects:
Online Access:http://hdl.handle.net/10400.10/2500
Country:Portugal
Oai:oai:repositorio.hff.min-saude.pt:10400.10/2500