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Search: authors:"Butheinah A. Al-Sharafi"

2 papers found.
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Neonatal hemolytic anemia does not always indicate thalassemia: a case report

Background Congenital erythropoietic porphyria is a rare autosomal recessive disorder that affects heme-porphyrin synthesis. This disorder is due to the genetic defect of uroporphyrinogen III cosynthase. This defect results in the accumulation of high amounts of uroporphyrin I in all tissues, leading to clinical manifestations ranging from mild to severe chronic damage of the skin, ...

Severe rickets in a young girl caused by celiac disease: the tragedy of delayed diagnosis: a case report

Background Celiac disease is a systemic immune mediated disease which usually presents with gastrointestinal symptoms, but it may present with extra gastrointestinal manifestations such as metabolic bone disease and failure to thrive. This may lead to a delay in the diagnosis. Case presentation We present a 13 year old female from the middle east with an 8 year history of severe ...