Clinical, biochemical and molecular characteristics of classic homocystinuria in Saudi Arabia and the impact of newborn screening on prevention of the complications: A tertiary center experience

Clinical, biochemical and molecular characteristics of classic homocystinuria in Saudi Arabia and the impact of newborn screening on prevention of the complications: A tertiary center experience

Abstract Background Classic homocystinuria (HCU) is a rare inborn metabolic disease that is generally asymptomatic at birth. If untreated, it can cause a wide range of complications including intellectual disability, lens dislocation, and thromboembolism. This study aimed to describe the natural his...

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Bibliographic Details
Main Authors: Ahmed Sarar Mohamed, Talal AlAnzi, Amal Alhashem, Hadeel Alrukban, Fahad Al Harbi, Sarar Mohamed
Format: Article
Language:English
Published: Wiley 2025-01-01
Series:JIMD Reports
Subjects:
amino acid disorder
classic homocystinuria
inborn errors of metabolism
newborn screening
sulfur
Online Access:https://doi.org/10.1002/jmd2.12454
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