Open Daily: 10am - 10pm | Alley door pickup 10am - 7pm 3038 Hennepin Ave Minneapolis, MN
612-822-4611

  • Open Daily: 10am - 10pm
    Alley-side Pickup: 10am - 7pm

    3038 Hennepin Ave Minneapolis, MN
    612-822-4611

Open Daily: 10am - 10pm | Alley-side Pickup: 10am - 7pm
3038 Hennepin Ave Minneapolis, MN
612-822-4611
Jimd Reports, Volume 27

Jimd Reports, Volume 27

Patterson, Marc
Morava, Eva
Baumgartner, Matthias

Paperback

Series: Jimd Reports, Book 27

Medical Reference

ISBN10: 3662504081
ISBN13: 9783662504086
Publisher: Springer
Published: May 17 2016
Pages: 112
Weight: 0.63
Height: 0.25 Width: 8.25 Depth: 11.00
Language: English
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.- SUCLA2N-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.

Also in

Medical Reference

View All