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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
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  • In the top 25% of all research outputs scored by Altmetric
  • One of the highest-scoring outputs from this source (#5 of 591)
  • High Attention Score compared to outputs of the same age (95th percentile)

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