JIMD Reports - Volume 11

Front Matter....Pages i-vii
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....Pages 1-6
Expanding the Spectrum of Methylmalonic Acid-Induced Pallidal Stroke : First Reported Case of Metabolic Globus Pallidus Stroke in Transcobalamin II Deficiency....Pages 7-11
A Large Intragenic Deletion in the ACADM Gene Can Cause MCAD Deficiency but is not Detected on Routine Sequencing....Pages 13-16
Infantile Hypophosphatasia Secondary to a Novel Compound Heterozygous Mutation Presenting with Pyridoxine-Responsive Seizures....Pages 17-24
Liver Transplantation Prevents Progressive Neurological Impairment in Argininemia....Pages 25-30
Motor and Speech Disorders in Classic Galactosemia....Pages 31-41
Defect of Cobalamin Intracellular Metabolism Presenting as Diabetic Ketoacidosis: A Rare Manifestation....Pages 43-47
Cerebral Magnetic Resonance Spectroscopy Demonstrates Long-Term Effect of Bone Marrow Transplantation in α-Mannosidosis....Pages 49-52
Early Cardiac Changes in Children with Anderson–Fabry Disease....Pages 53-64
Development of a Scoring System to Evaluate the Severity of Craniocervical Spinal Cord Compression in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome)....Pages 65-72
Outcome of Perinatal Hypophosphatasia in Manitoba Mennonites: A Retrospective Cohort Analysis....Pages 73-78
Novel Deletion Mutation Identified in a Patient with Late-Onset Combined Methylmalonic Acidemia and Homocystinuria, cblC Type....Pages 79-85
Substrate Reduction Therapy in Four Patients with Milder CLN1 Mutations and Juvenile-Onset Batten Disease Using Cysteamine Bitartrate....Pages 87-92
A Clinically Severe Variant of β-Mannosidosis, Presenting with Neonatal Onset Epilepsy with Subsequent Evolution of Hydrocephalus....Pages 93-97
A Novel Exonic Splicing Mutation in the TAZ ( G4.5 ) Gene in a Case with Atypical Barth Syndrome....Pages 99-106
Selective Screening for Lysosomal Storage Diseases with Dried Blood Spots Collected on Filter Paper in 4,700 High-Risk Colombian Subjects....Pages 107-116
Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases....Pages 117-123
Spondyloepiphyseal Dysplasias and Bilateral Legg-Calvé-Perthes Disease: Diagnostic Considerations for Mucopolysaccharidoses....Pages 125-132
Severe Neonatal Metabolic Decompensation in Methylmalonic Acidemia Caused by CblD Defect....Pages 133-137
Socio-emotional Problems in Children with CDG....Pages 139-148
Metabolic Profiling of Total Homocysteine and Related Compounds in Hyperhomocysteinemia: Utility and Limitations in Diagnosing the Cause of Puzzling Thrombophilia in a Family....Pages 149-163
Fatty Acid Oxidation Disorders in a Chinese Population in Taiwan....Pages 165-172