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Urinary stones as the initial presentation in a child with late-onset molybdenum cofactor deficiency type B: a case report and review of literature by Abdelrahim A. Sadek, Mohammed A. Aladawy, Rofaida M. Magdy, Mohammed Fawzy Fouad, Tarek M. M. Mansour, Eman Fathalla Gad, Elsayed Abdelkreem
Published 2025-06-01Get full text
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Three siblings with giant axonal neuropathy caused by a novel variant in GAN gene: the first report from Egypt by Abdelrahim A. Sadek, Mohammed A. Aladawy, Tarek M. M. Mansour, Ali Farag El Hadad, Abd Elaziz Shokry, Rin Khang, Seung Woo Ryu, Elsayed Abdelkreem
Published 2025-07-01Get full text
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