Search Results - "Bakkar A., Ayman A."

Sjogren–Larsson Syndrome: A case series of five members from an extended family with a novel mutation by Abidi, Kamel T., Kamal, Naglaa M., Bakkar A., Ayman A., Alotaibi, Maram, Asseri, Haifa, Bokari, Kawthar A.

“…Backgroundd Sjogren–Larsson syndrome (SLS) is a rare autosomal recessive disorder, characterized by a triad of spastic tetraplegia or diplegia, congenital…”
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Lipoid Congenital Adrenal Hyperplasia With a Novel StAR Gene Mutation by Bakkar, Ayman A, Alsaedi, Abdulaziz, Kamal, Naglaa M, Althobaiti, Enad, Aboulkhair, Lujain A, Almalki, Abdullah M, Alsalmi, Shaima A, Alharthi, Qaydah, Abosabie, Sara A, Abosabie, Salma AS

“…Lipoid congenital adrenal hyperplasia (LCAH) is characterized by disturbance of adrenal and gonadal steroidogenesis (OMIM:201710). It is caused by mutation in…”
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Vici syndrome with pathogenic homozygous EPG5 gene mutation: A case report and literature review by Abidi, Kamal T., Kamal, Naglaa M., Bakkar, Ayman A., Almarri, Saad, Abdullah, Rehab, Alsufyani, Maram, Alharbi, Arwa

“…Vici syndrome (VICIS) is a rare, autosomal recessive neurodevelopmental disorder with multisystem involvement characterized by agenesis of the corpus callosum,…”
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Late presentation of necrotizing enterocolitis associated with rotavirus infection in a term infant with hyperinsulinism on octreotide therapy: A case report by Alsaedi, Abdulaziz A., Bakkar, Ayman A., Kamal, Naglaa M., Althobiti, Jwaher M.

“…Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infancy that can cause permanent brain damage. Consequently, optimal…”
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Idiopathic hypoparathyroidism with extensive intracranial calcification in children: First report from Saudi Arabia by Kamal, Naglaa M, Alghamdi, Hamed A, Halabi, Abdulrahman A, Bakkar, Ayman A, Algarni, Ali, Alharbi, Abdullah, Alharthi, Abdulla A, Alharbi, Rawan A, Sherief, Laila M

“…Pediatric idiopathic hypoparathyroidism with extensive intracranial calcifications outside the basal ganglia (BG) is extremely rare with less than 10 cases…”
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