JIMD Reports, Volume 27 (eBook)

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.- SUCLA2<
Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings
(Report of a New Patient and Review of the Literature).- Diagnostic
Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion
of Mevalonate Kinase Deficiency (MKD).- Hyperprolinemia
in Type 2 Glutaric Aciduria and MADD-Like Profiles.- IgG
N-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.