Jimd Reports, Volume 27

Detailed Biochemical and Bioenergetic Characterization of FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion.- Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency.- Application of an Image Cytometry Protocol for Cellular and Mitochondrial Phenotyping on Fibroblasts from Patients with Inherited Disorders.- SUCLA2N-Glycosylation Galactose Incorporation Ratios for the Monitoring of Classical Galactosaemia.- Intracranial Pressure Monitoring Demonstrates that Cerebral Edema Is Not Correlated to Hyperammonemia in a Child with Ornithine Transcarbamylase Deficiency.- No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction.- Voluntary Exercise Prevents Oxidative Stress in the Brain of Phenylketonuria Mice.- Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6.- The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group.- Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs).- The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency.- Further Delineation of the ALG9-CDG Phenotype.

• Format: Paperback
• Language: English
• ISBN: 3662504081
• ISBN13: 9783662504086
• Release Date: May 2016
• Publisher: Springer
• Length: 112 Pages
• Weight: 0.63 lbs.
• Dimensions: 0.3" x 8.3" x 11.0"