نتایج جستجو برای: neurometabolic disorder

تعداد نتایج: 597203  

Journal: :The New England journal of medicine 2016
Maja Tarailo-Graovac Casper Shyr Colin J Ross Gabriella A Horvath Ramona Salvarinova Xin C Ye Lin-Hua Zhang Amit P Bhavsar Jessica J Y Lee Britt I Drögemöller Mena Abdelsayed Majid Alfadhel Linlea Armstrong Matthias R Baumgartner Patricie Burda Mary B Connolly Jessie Cameron Michelle Demos Tammie Dewan Janis Dionne A Mark Evans Jan M Friedman Ian Garber Suzanne Lewis Jiqiang Ling Rupasri Mandal Andre Mattman Margaret McKinnon Aspasia Michoulas Daniel Metzger Oluseye A Ogunbayo Bojana Rakic Jacob Rozmus Peter Ruben Bryan Sayson Saikat Santra Kirk R Schultz Kathryn Selby Paul Shekel Sandra Sirrs Cristina Skrypnyk Andrea Superti-Furga Stuart E Turvey Margot I Van Allen David Wishart Jiang Wu John Wu Dimitrios Zafeiriou Leo Kluijtmans Ron A Wevers Patrice Eydoux Anna M Lehman Hilary Vallance Sylvia Stockler-Ipsiroglu Graham Sinclair Wyeth W Wasserman Clara D van Karnebeek

BACKGROUND Whole-exome sequencing has transformed gene discovery and diagnosis in rare diseases. Translation into disease-modifying treatments is challenging, particularly for intellectual developmental disorder. However, the exception is inborn errors of metabolism, since many of these disorders are responsive to therapy that targets pathophysiological features at the molecular or cellular lev...

Journal: :International Journal of Endocrinology 2012

Journal: :Experimental physiology 2006
Pierre J Magistretti

The coupling between synaptic activity and glucose utilization (neurometabolic coupling) is a central physiological principle of brain function that has provided the basis for 2-deoxyglucose-based functional imaging with positron emission tomography (PET). Astrocytes play a central role in neurometabolic coupling, and the basic mechanism involves glutamate-stimulated aerobic glycolysis; the sod...

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