Article
[Severe hyperhomocysteinemia revealing homocystinuria in two young adults with mild phenotype].
La Revue de medecine interne - 1 Feb 2006
Ducros V, Rousset J, Garambois K, Boujet C, Rolland M O, Valenti K, Bouillet L, Jaillard A, Favier A
Abstract excerpt
INTRODUCTION: To the request of total plasma homocysteine determination in the investigation of vascular disease, diagnosis of homocystinuria in young adult patients with mild phenotype is not so rare. EXEGESIS: A 26-year-old man developed embolic cerebral infarction and a 22-year-old woman presented a right renal venous thrombosis one week after delivery. In each case, high concentration of total plasma...
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