Konu "Maple syrup urine disease" için Dahili Tıp Bilimleri Bölümü Koleksiyonu listeleme
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Diffusion Weighted Imaging and MR Spectroscopic Findings in Maple Syrup Urine Disease: The Importance of Early Radiological Diagnosis in the Prevention of Cerebral Parenchymal Damage
(MEDCOM LTD, 2021)Maple Syrup Urine Disease is a very rare autosomal recessive inherited disease that results from the defect in the catalytic activity of the alpha ketoacid dehydrogenase enzyme complex. The deficiency in the catabolism of ...