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

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 venous s...

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Detalhes bibliográficos
Autor principal: Carvalho, Fábia (author)
Outros Autores: Campos, Teresa (author), Reis, Joana (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: article
Idioma:eng
Publicado em: 2021
Assuntos:
homocystinuria
neonatal screening
Newborn Screening
Sinus Thrombosis
Texto completo:http://hdl.handle.net/10400.16/2503
País:Portugal
Oai:oai:repositorio.chporto.pt:10400.16/2503

Texto Completo

http://hdl.handle.net/10400.16/2503

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