Suspecting classical homocystinuria in an adolescent born before the newborn screening program

Abstract Introduction: Classical homocystinuria (HCU) is an autosomal recessive disorder caused by a deficiency in the cystathionine beta-synthase enzyme and associated with a high probability of vascular complications. Herein is presented the case of an adolescent diagnosed with HCU during cerebral...

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Detalhes bibliográficos
Autor principal: Carvalho,Fábia Ginja de (author)
Outros Autores: Campos,Teresa (author), Reis,Joana Soares dos (author), Portela,Mariana (author), Vasconcelos,Carla (author), Ferreira,Carla (author), Cerqueira,Arnaldo (author), Oliveira,Ângela (author), Vilarinho,Laura (author), Leão-Teles,Elisa (author), Rodrigues,Esmeralda (author)
Formato: report
Idioma:eng
Publicado em: 2021
Assuntos:
homocystinuria
neonatal screening
sinus thrombosis
Texto completo:http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542021000100044
País:Portugal
Oai:oai:scielo:S0872-07542021000100044

Texto Completo

http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542021000100044

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