JIMD Reports, Volume 27

Chapter 435 The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group.

Chapter 460 Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6

Chapter 463 Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Chapter 464 SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature).

Chapter 468 No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction

Chapter 476 The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency

Chapter 481 Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles.

Chapter 486 Intracranial Pressure Monitoring Demonstrates that Cerebral Edema Is Not Correlated to Hyperammonemia in a Child with Ornithine Transcarbamylase Deficiency

Chapter 489 Diagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MKD)

Chapter 490 IgG N-Glycosylation Galactose Incorporation Ratios for the Monitoring of Classical Galactosaemia

Chapter 491 Detailed Biochemical and Bioenergetic Characterization of FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion.

Chapter 494 Application of an Image Cytometry Protocol for Cellular and Mitochondrial Phenotyping on Fibroblasts from Patients with Inherited Disorders

Chapter 497 Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs).

Chapter 498 Voluntary Exercise Prevents Oxidative Stress in the Brain of Phenylketonuria Mice.

Chapter 504 Further Delineation of the ALG9-CDG Phenotype.