JIMD Reports, Volume 27

JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

List of contents

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.

Summary

JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

Product details

• Assisted by: Matthia Baumgartner (Editor), Matthias Baumgartner (Editor), Eva Morava (Editor), Marc Patterson (Editor), Marc Patterson et al (Editor), Verena Peters (Editor), Shamima Rahman (Editor), Johannes Zschocke (Editor)
• Publisher: Springer, Berlin
• Languages: English
• Product format: Paperback / Softback
• Released: 01.01.2016
• EAN: 9783662504086
• ISBN: 978-3-662-50408-6
• No. of pages: 112
• Dimensions: 212 mm x 281 mm x 7 mm
• Weight: 314 g
• Illustrations: VI, 112 p. 28 illus., 14 illus. in color.
• Series: JIMD Reports; JIMD; JIMD; JIMD Reports
• Subjects: Natural sciences, medicine, IT, technology > Medicine > Clinical medicine; B, Medical research, Diseases, Pediatrics, METABOLISM, molecular biology, Human Genetics, Biomedical and Life Sciences, Medical Genetics, Biomedical Research, Paediatric medicine, Molecular Medicine, Metabolic Diseases