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JIMD Reports, Volume 42

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Table of Contents

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    Book Overview
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    Chapter 64 Acute Pancreatitis Secondary to Severe Hypertriglyceridaemia in a Patient with Type 1a Glycogen Storage Disease: Emergent Use of Plasmapheresis
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    Chapter 67 A Third Case of Glycogen Storage Disease IB and Giant Cell Tumour of the Mandible: A Disease Association or Iatrogenic Complication of Therapy
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    Chapter 70 Cardiopulmonary Exercise Testing Reflects Improved Exercise Capacity in Response to Treatment in Morquio A Patients: Results of a 52-Week Pilot Study of Two Different Doses of Elosulfase Alfa
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    Chapter 71 EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders
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    Chapter 73 Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q10 Deficiency in a Female Sib-Pair
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    Chapter 75 The Validity of Bioelectrical Impedance Analysis to Measure Body Composition in Phenylketonuria
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    Chapter 77 Effect of Storage Conditions on Stability of Ophthalmological Compounded Cysteamine Eye Drops
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    Chapter 78 Mitochondrial Disease in Children: The Nephrologist’s Perspective
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    Chapter 79 Leber Hereditary Optic Neuropathy and Longitudinally Extensive Transverse Myelitis
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    Chapter 83 Long-Term Systematic Monitoring of Four Polish Transaldolase Deficient Patients
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    Chapter 85 Characterization of Phenyalanine Hydroxylase Gene Mutations in Chilean PKU Patients
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    Chapter 86 Beneficial Effect of BH4 Treatment in a 15-Year-Old Boy with Biallelic Mutations in DNAJC12
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    Chapter 87 Coping Strategies, Stress, and Support Needs in Caregivers of Children with Mucopolysaccharidosis
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    Chapter 88 Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review
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    Chapter 89 Mitochondrial Encephalopathy: First Portuguese Report of a VARS2 Causative Variant
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JIMD Reports, Volume 42
Published by
Springer Berlin Heidelberg, January 2019
DOI 10.1007/978-3-662-58365-4
978-3-66-258364-7, 978-3-66-258365-4

Morava, Eva, Baumgartner, Matthias, Patterson, Marc, Rahman, Shamima, Zschocke, Johannes, Peters, Verena

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