JIMD reports. Volume 27

Front Matter....Pages i-vi
Detailed Biochemical and Bioenergetic Characterization of FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion....Pages 1-9
Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency....Pages 11-15
Application of an Image Cytometry Protocol for Cellular and Mitochondrial Phenotyping on Fibroblasts from Patients with Inherited Disorders....Pages 17-26
 SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature)....Pages 27-32
Diagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MKD)....Pages 33-38
Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles....Pages 39-45
IgG N-Glycosylation Galactose Incorporation Ratios for the Monitoring of Classical Galactosaemia....Pages 47-53
Intracranial Pressure Monitoring Demonstrates that Cerebral Edema Is Not Correlated to Hyperammonemia in a Child with Ornithine Transcarbamylase Deficiency....Pages 55-62
No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction....Pages 63-68
Voluntary Exercise Prevents Oxidative Stress in the Brain of Phenylketonuria Mice....Pages 69-77
Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6 ....Pages 79-84
The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group....Pages 85-91
Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs)....Pages 93-99
The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency....Pages 101-106
Further Delineation of the ALG9-CDG Phenotype....Pages 107-112