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JIMD Reports - Case and Research Reports, 2012/5

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Cover of 'JIMD Reports - Case and Research Reports, 2012/5'

Table of Contents

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    Book Overview
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    Chapter 147 The Acid Sphingomyelinase Sequence Variant p.A487V Is Not Associated With Decreased Levels of Enzymatic Activity
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    Chapter 148 The Changing Face of Infantile Pompe Disease: A Report of Five Patients from the UAE
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    Chapter 149 A Pilot Study of the Effect of (E, E)-2, 4-Undecadienal on the Offensive Odour of Trimethylamine
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    Chapter 150 ALG6-CDG in South Africa: Genotype-Phenotype Description of Five Novel Patients
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    Chapter 151 Unexplained Hypoglycemia During Continuous Nocturnal Gastric Drip-Feeding in a Patient with Glycogen Storage Disease Type Ia: Is It a Dumping-Like Syndrome?
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    Chapter 152 A Dysmorphometric Analysis to Investigate Facial Phenotypic Signatures as a Foundation for Non-invasive Monitoring of Lysosomal Storage Disorders
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    Chapter 155 JIMD Reports - Case and Research Reports, 2012/5
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    Chapter 159 Inheritance of the m.3243A>G mutation
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    Chapter 160 Recommendations on Reintroduction of Agalsidase Beta for Patients with Fabry Disease in Europe, Following a Period of Shortage
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    Chapter 161 cblE -Type Homocystinuria Presenting with Features of Haemolytic-Uremic Syndrome in the Newborn Period
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    Chapter 162 Mannose 6-Phosphate Conjugation Is Not Sufficient to Allow Induction of Immune Tolerance to Phenylalanine Ammonia-Lyase in Dogs
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    Chapter 163 Association of Dopamine Receptor Gene Polymorphisms with the Clinical Course of Wilson Disease
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    Chapter 164 Growth in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
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    Chapter 165 Fabry Disease in Latin America: Data from the Fabry Registry
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    Chapter 167 Questioning the Pathogenic Role of the GLA p.Ala143Thr “Mutation” in Fabry Disease: Implications for Screening Studies and ERT
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    Chapter 168 A Systematic Review of BH4 (Sapropterin) for the Adjuvant Treatment of Phenylketonuria.
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    Chapter 169 JIMD Reports - Case and Research Reports, 2012/5
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    Chapter 170 Therapeutic Efficacy of Magnesium Valproate in Succinic Semialdehyde Dehydrogenase Deficiency
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    Chapter 171 Barriers to Transplantation in Adults with Inborn Errors of Metabolism
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    Chapter 172 Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165
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Title
JIMD Reports - Case and Research Reports, 2012/5
Published by
Springer Berlin Heidelberg, October 2012
DOI 10.1007/978-3-642-33433-7
ISBNs
978-3-64-233432-0, 978-3-64-233433-7
Editors

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

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Geographical breakdown

Country Count As %
Unknown 2 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 1 50%
Student > Doctoral Student 1 50%
Readers by discipline Count As %
Computer Science 1 50%
Medicine and Dentistry 1 50%