JIMD Reports, Volume 27

DetailedBiochemical and Bioenergetic Characterization of FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion.- RecurrentVentricular Tachycardia in Medium-Chain Acyl-Coenzyme A DehydrogenaseDeficiency.- Applicationof an Image Cytometry Protocol for Cellular and Mitochondrial Phenotyping on Fibroblastsfrom Patients with Inherited Disorders.- SUCLA2N-Glycosylation GalactoseIncorporation Ratios for the Monitoring of Classical Galactosaemia.- IntracranialPressure Monitoring Demonstrates that Cerebral Edema Is Not Correlated to Hyperammonemiain a Child with Ornithine Transcarbamylase Deficiency.- NoEvidence for Association of SCO2Heterozygosity with High-Grade Myopia or Other Diseases with PossibleMitochondrial Dysfunction.- VoluntaryExercise Prevents Oxidative Stress in the Brain of Phenylketonuria Mice.- SeizuresDue to a KCNQ2 Mutation: Treatmentwith Vitamin B₆.- TheFrequencies of Different Inborn Errors of Metabolism in Adult MetabolicCentres: Report from the SSIEM Adult Metabolic Physicians Group.- ElectroclinicalFeatures of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation(CDGs).- TheNewborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency.- FurtherDelineation of the ALG9-CDG Phenotype.