Familial homocystinuria
JCPSP-Journal of the College of Physicians and Surgeons Pakistan. 2005; 15 (2): 106-107
em Inglês
| IMEMR
| ID: emr-71493
ABSTRACT
Two cases of siblings diagnosed as cases of familial homocystinuria are reported. Both the cases have classical presentation of familial homocystinuria including history of dislocation of lens of the right eye. Brother had history of psychomotor retardation while sister had a significant history of deep vein thrombosis. Levels of plasma homocysteine were elevated and urinary homocysteine was positive in both the cases
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Índice:
IMEMR (Mediterrâneo Oriental)
Assunto principal:
Subluxação do Cristalino
/
Consanguinidade
/
Trombose Venosa
/
Deficiência Intelectual
Tipo de estudo:
Relato de Casos
Limite:
Feminino
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
J. Coll. Physicians Surg. Pak.
Ano de publicação:
2005
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