The role of the Clinical Biochemistry laboratory in the diagnosis of HOMOCYSTINURIA

The role of the Clin" rel="nofollow">inical Biochemistry laboratory in" rel="nofollow">in the diagnosis of HOMOCYSTINURIA(pyridoxin" rel="nofollow">ine unresponsive) (HCU) 1. An accompanyin" rel="nofollow">ing commentary in" rel="nofollow">in the notes pane of approximately 3000 words, without considerin" rel="nofollow">ing References. • 3000 ± 300 words annotated slides). – Introduction to the disease (Include symptoms and signs, biochemistry supportin" rel="nofollow">ing the pathophysiology) – Genetic background (e.g. mutations) – Clin" rel="nofollow">inical Tests available (e.g. metabolite, enzyme, gene mappin" rel="nofollow">ing/sequence, in" rel="nofollow">include description of methodology) – Treatment/Prognosis – References