2024
DOI: 10.1002/jmd2.12454
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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

Ahmed Sarar Mohamed,
Talal AlAnzi,
Amal Alhashem
et al.

Abstract: BackgroundClassic 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 history and the molecular findings of patients with HCU, and to assess the importance of early diagnosis.MethodsThis study retrospectively collected data on patients attending the metabolic unit at Prince Sultan Military Medical… Show more

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