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  1. Article

    Open Access

    Analysis of disease characteristics of a large patient cohort with congenital generalized lipodystrophy from the Middle East and North Africa

    Congenital generalized lipodystrophy (CGL) is a rare inherited disease characterized by a near-total absence of adipose tissue and is associated with organ system abnormalities and severe metabolic complicatio...

    Saif Al Yaarubi, Afaf Alsagheir, Azza Al Shidhani… in Orphanet Journal of Rare Diseases (2024)

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  2. Article

    Open Access

    The genomic landscape of rare disorders in the Middle East

    Rare diseases collectively impose a significant burden on healthcare systems, especially in underserved regions, like the Middle East, which lack access to genomic diagnostic services and the associated person...

    Maha El Naofal, Sathishkumar Ramaswamy, Ali Alsarhan, Ahmed Nugud… in Genome Medicine (2023)

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  3. No Access

    Chapter

    Metabolic Bone Disease

    This chapter examines bone physiology and biochemistry and the diseases that result from disturbed function. Some disorders such as rickets and osteoporosis are comparatively common in children and every gener...

    Ahmed Nugud, Alaa Nugud, Sattar Alshryda… in Pediatric Orthopedics for Primary Healthca… (2021)