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JIMD Reports Volume 16

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Cover of 'JIMD Reports Volume 16'

Table of Contents

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    Book Overview
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    Chapter 309 Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect
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    Chapter 310 Fabry Disease: Multidisciplinary Evaluation After 10 Years of Treatment with Agalsidase Beta
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    Chapter 311 Chondroitin 6-Sulfate as a Novel Biomarker for Mucopolysaccharidosis IVA and VII
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    Chapter 312 Carnitine Profile and Effect of Suppletion in Children with Renal Fanconi Syndrome due to Cystinosis
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    Chapter 315 Cognitive and Antipsychotic Medication Use in Monoallelic GBA -Related Parkinson Disease
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    Chapter 316 Laronidase Replacement Therapy and Left Ventricular Function in Mucopolysaccharidosis I
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    Chapter 318 Fibrolamellar Hepatocellular Carcinoma Mimicking Ornithine Transcarbamylase Deficiency
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    Chapter 319 Reversal of Respiratory Failure in Both Neonatal and Late Onset Isolated Remethylation Disorders.
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    Chapter 320 Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP)
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    Chapter 321 Analysis of Methylcitrate in Dried Blood Spots by Liquid Chromatography-Tandem Mass Spectrometry.
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    Chapter 322 The Expanding MEGDEL Phenotype: Optic Nerve Atrophy, Microcephaly, and Myoclonic Epilepsy in a Child with SERAC1 Mutations.
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    Chapter 323 Isolated Mild Intellectual Disability Expands the Aminoacylase 1 Phenotype Spectrum
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    Chapter 324 Birth Prevalence of Fatty Acid β-Oxidation Disorders in Iberia
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    Chapter 325 Perioperative Medullary Complications in Spinal and Extra-Spinal Surgery in Mucopolysaccharidosis: A Case Series of Three Patients
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    Chapter 326 NMR-Based Screening for Inborn Errors of Metabolism: Initial Results from a Study on Turkish Neonates
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Title
JIMD Reports Volume 16
Published by
Springer Berlin Heidelberg, November 2014
DOI 10.1007/978-3-662-44587-7
ISBNs
978-3-66-244586-0, 978-3-66-244587-7
Editors

Zschocke, Johannes, Gibson, K. Michael, Brown, Garry, Morava, Eva, Peters, Verena

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