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JIMD Reports, Volume 41

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Cover of 'JIMD Reports, Volume 41'

Table of Contents

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    Book Overview
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    Chapter 72 Assessment of the Effect of Once Daily Nitisinone Therapy on 24-h Urinary Metadrenalines and 5-Hydroxyindole Acetic Acid Excretion in Patients with Alkaptonuria After 4 Weeks of Treatment
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    Chapter 74 Severe Hyperammonemic Encephalopathy Requiring Dialysis Aggravated by Prolonged Fasting and Intermittent High Fat Load in a Ramadan Fasting Month in a Patient with CPTII Homozygous Mutation
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    Chapter 76 Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease
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    Chapter 80 Expert Opinion vs Patient Perspective in Treatment of Rare Disorders: Tooth Removal in Lesch-Nyhan Disease as an Example
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    Chapter 81 Two Uneventful Pregnancies in a Woman with Glutaric Aciduria Type 1
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    Chapter 84 The Influence of Patient-Reported Joint Manifestations on Quality of Life in Fabry Patients
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    Chapter 90 Probable Diagnosis of a Patient with Niemann–Pick Disease Type C: Managing Pitfalls of Exome Sequencing
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    Chapter 98 Alkaptonuria Severity Score Index Revisited: Analysing the AKUSSI and Its Subcomponent Features
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    Chapter 102 Reduced Muscle Strength in Barth Syndrome May Be Improved by Resistance Exercise Training: A Pilot Study
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    Chapter 103 Cognitive Impairments and Subjective Cognitive Complaints in Fabry Disease: A Nationwide Study and Review of the Literature
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    Chapter 104 Effectiveness of Early Hematopoietic Stem Cell Transplantation in Preventing Neurocognitive Decline in Mucopolysaccharidosis Type II: A Case Series
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    Chapter 105 Parenting a Child with Phenylketonuria: An Investigation into the Factors That Contribute to Parental Distress
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    Chapter 106 P-Tau and Subunit c Mitochondrial ATP Synthase Accumulation in the Central Nervous System of a Woman with Hurler–Scheie Syndrome Treated with Enzyme Replacement Therapy for 12 Years
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    Chapter 109 Serum Amino Acid Profiling in Patients with Alkaptonuria Before and After Treatment with Nitisinone
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    Chapter 120 Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients
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JIMD Reports, Volume 41
Published by
Springer Berlin Heidelberg, November 2018
DOI 10.1007/978-3-662-58081-3
978-3-66-258080-6, 978-3-66-258081-3

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

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