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

The role of the Clinical Biochemistry laboratory in the diagnosis of HOMOCYSTINURIA
(pyridoxine unresponsive) (HCU)
1. An accompanying commentary in the notes pane of approximately 3000 words, without considering References.

• 3000 ± 300 words annotated slides).
– Introduction to the disease (Include symptoms and signs, biochemistry supporting the pathophysiology)
– Genetic background (e.g. mutations)
– Clinical Tests available (e.g. metabolite, enzyme, gene mapping/sequence, include description of methodology)
– Treatment/Prognosis
– References


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