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Author:   Eva Morava ,  Matthias Baumgartner ,  Marc Patterson ,  Shamima Rahman
Publisher:   Springer-Verlag Berlin and Heidelberg GmbH & Co. KG
Imprint:   Springer-Verlag Berlin and Heidelberg GmbH & Co. K
Edition:   1st ed. 2016
Volume:   27
Dimensions:   Width: 21.00cm , Height: 0.60cm , Length: 27.90cm
Weight:   3.121kg
ISBN:  

9783662504086

ISBN 10:   3662504081
Pages:   112
Publication Date:   17 May 2016
Audience:   Professional and scholarly ,  Professional & Vocational
Format:   Paperback
Publisher's Status:   Active
Availability:   Manufactured on demand  
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Table of Contents

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.

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