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JIMD Reports - Volume 11

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Cover of 'JIMD Reports - Volume 11'

Table of Contents

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    Book Overview
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    Chapter 214 Enzyme Replacement Therapy in a Patient with Gaucher Disease Type III: A Paradigmatic Case Showing Severe Adverse Reactions Started a Long Time After the Beginning of Treatment
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    Chapter 215 Expanding the Spectrum of Methylmalonic Acid-Induced Pallidal Stroke: First Reported Case of Metabolic Globus Pallidus Stroke in Transcobalamin II Deficiency
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    Chapter 216 A Large Intragenic Deletion in the ACADM Gene Can Cause MCAD Deficiency but is not Detected on Routine Sequencing
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    Chapter 217 Infantile Hypophosphatasia Secondary to a Novel Compound Heterozygous Mutation Presenting with Pyridoxine-Responsive Seizures
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    Chapter 218 Liver Transplantation Prevents Progressive Neurological Impairment in Argininemia
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    Chapter 219 Motor and Speech Disorders in Classic Galactosemia.
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    Chapter 220 Defect of Cobalamin Intracellular Metabolism Presenting as Diabetic Ketoacidosis: A Rare Manifestation.
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    Chapter 221 Cerebral Magnetic Resonance Spectroscopy Demonstrates Long-Term Effect of Bone Marrow Transplantation in α-Mannosidosis
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    Chapter 222 Early Cardiac Changes in Children with Anderson–Fabry Disease
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    Chapter 223 Development of a Scoring System to Evaluate the Severity of Craniocervical Spinal Cord Compression in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome)
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    Chapter 224 Outcome of Perinatal Hypophosphatasia in Manitoba Mennonites: A Retrospective Cohort Analysis
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    Chapter 225 Novel Deletion Mutation Identified in a Patient with Late-Onset Combined Methylmalonic Acidemia and Homocystinuria, cblC Type.
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    Chapter 226 Substrate Reduction Therapy in Four Patients with Milder CLN1 Mutations and Juvenile-Onset Batten Disease Using Cysteamine Bitartrate.
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    Chapter 227 A Clinically Severe Variant of β-Mannosidosis, Presenting with Neonatal Onset Epilepsy with Subsequent Evolution of Hydrocephalus
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    Chapter 228 A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome
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    Chapter 229 Selective Screening for Lysosomal Storage Diseases with Dried Blood Spots Collected on Filter Paper in 4,700 High-Risk Colombian Subjects
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    Chapter 230 Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases
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    Chapter 231 Spondyloepiphyseal Dysplasias and Bilateral Legg-Calvé-Perthes Disease: Diagnostic Considerations for Mucopolysaccharidoses
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    Chapter 232 Severe Neonatal Metabolic Decompensation in Methylmalonic Acidemia Caused by CblD Defect.
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    Chapter 233 Socio-emotional Problems in Children with CDG
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    Chapter 235 Metabolic Profiling of Total Homocysteine and Related Compounds in Hyperhomocysteinemia: Utility and Limitations in Diagnosing the Cause of Puzzling Thrombophilia in a Family
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    Chapter 236 Fatty Acid Oxidation Disorders in a Chinese Population in Taiwan
Attention for Chapter 233: Socio-emotional Problems in Children with CDG
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Citations

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Chapter title
Socio-emotional Problems in Children with CDG
Chapter number 233
Book title
JIMD Reports - Volume 11
Published in
JIMD Reports, June 2013
DOI 10.1007/8904_2013_233
Pubmed ID
23733602
Book ISBNs
978-3-64-237327-5, 978-3-64-237328-2
Authors

K. F. E. van de Loo, L. van Dongen, M. Mohamed, T. Gardeitchik, T. W. Kouwenberg, S. B. Wortmann, R. J. T. Rodenburg, D. J. Lefeber, E. Morava, C. M. Verhaak

Editors

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

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 17 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 17 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 5 29%
Researcher 3 18%
Student > Bachelor 2 12%
Student > Ph. D. Student 1 6%
Librarian 1 6%
Other 2 12%
Unknown 3 18%
Readers by discipline Count As %
Psychology 4 24%
Biochemistry, Genetics and Molecular Biology 3 18%
Medicine and Dentistry 3 18%
Agricultural and Biological Sciences 1 6%
Nursing and Health Professions 1 6%
Other 1 6%
Unknown 4 24%

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