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Titlebook: JIMD Reports, Volume 29; Eva Morava,Matthias Baumgartner,Verena Peters Book 2016 SSIEM and Springer-Verlag Berlin Heidelberg 2016 inherite

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CoQ10 Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome, deficiency in order to determine whether low CoQ is a recurrent biochemical feature of this disorder, to justify CoQ. supplementation as therapeutic option..CoQ. levels were investigated in plasma, white blood cells, and skin fibroblasts of 16 patients and healthy controls and in the brain, cerebel
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Correlation Between Flexible Fiberoptic Laryngoscopic and Polysomnographic Findings in Patients wite VI and to describe upper airway anatomical findings and abnormal PSG results in these patients. In this cross-sectional study, all MPS VI patients followed up at the genetic division of a hospital in southern Brazil were included. Overnight PSG was performed, and the results were classified as nor
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The Lactose and Galactose Content of Cheese Suitable for Galactosaemia: New Analysis,te and Emmi Emmental fondue mix from 32 cheese samples. The Medical Advisory Panel define suitable cheese in galactosaemia to have a lactose and galactose content consistently below 10 mg/100 g...: A total of 32 samples (5 types of mature Cheddar cheese, Comte and “Emmi Swiss Fondue”, an emmental fo
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