Hadeel Al-Manea

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BACKGROUND Accurate diagnosis of the primary cause of an individual's kidney disease can be essential for proper management. Some kidney diseases have overlapping histopathologic features despite being caused by defects in different genes. In this report, we describe 2 consanguineous Saudi Arabian families in which individuals presented with kidney failure(More)
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disorder caused by mutations in the autoimmune regulator gene (AIRE). Terminal 4q deletion is also a rare cytogenetic abnormality that causes a variable syndrome of dysmorphic features, mental retardation, growth retardation, and heart and limb defects. We(More)
BACKGROUND Misdiagnosed or incidentally detected hepatocellular carcinoma (HCC) in liver explant is an undesirable surprise that might pose a medical challenge in the post-transplant setting. MATERIAL AND METHODS From May 2001 to the end of December 2013, 463 and 137 liver transplants for adult and pediatric patients, respectively, were performed at our(More)
Glycogen storage disease type IX (GSD IX) is a common form of glycogenosis due to mutations in PHKA1, PHKA2, or PHKB and PHKG2 genes resulting in the deficiency of phosphorylase kinase. The first two genes are X-linked while the latter two follow an autosomal recessive inheritance. The majority of cases of GSD IX are attributed to defects in PHKA2 which(More)
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