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JIMD Reports, Volume 27

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Cover of 'JIMD Reports, Volume 27'

Table of Contents

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    Book Overview
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    Chapter 435 The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group.
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    Chapter 460 Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6
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    Chapter 463 Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
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    Chapter 464 SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature).
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    Chapter 468 No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction
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    Chapter 476 The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency
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    Chapter 481 Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles.
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    Chapter 486 Intracranial Pressure Monitoring Demonstrates that Cerebral Edema Is Not Correlated to Hyperammonemia in a Child with Ornithine Transcarbamylase Deficiency
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    Chapter 489 Diagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MKD)
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    Chapter 490 IgG N-Glycosylation Galactose Incorporation Ratios for the Monitoring of Classical Galactosaemia
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    Chapter 491 Detailed Biochemical and Bioenergetic Characterization of FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion.
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    Chapter 494 Application of an Image Cytometry Protocol for Cellular and Mitochondrial Phenotyping on Fibroblasts from Patients with Inherited Disorders
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    Chapter 497 Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs).
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    Chapter 498 Voluntary Exercise Prevents Oxidative Stress in the Brain of Phenylketonuria Mice.
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    Chapter 504 Further Delineation of the ALG9-CDG Phenotype.
Attention for Chapter 460: Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6
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