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JIMD Reports: Volume 11 [electronic book]

Johannes Zschocke, K. Michael Gibson, editors-in-chief ; Garry Brown, Eva Morava, editors
EBook; Book; Online
Berlin : Springer, 2013.
JIMD Reports
JIMD reports
9783642373282 (electronic bk.), 3642373283 (electronic bk.), 9783642373275
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  • 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
  • Expanding the Spectrum of Methylmalonic Acid-Induced Pallidal Stroke: First Reported Case of Metabolic Globus Pallidus Stroke in Transcobalamin II Deficiency
  • A Large Intragenic Deletion in the ACADM Gene Can Cause MCAD Deficiency but is not Detected on Routine Sequencing
  • Infantile Hypophosphatasia Secondary to a Novel Compound Heterozygous Mutation Presenting with Pyridoxine-Responsive Seizures
  • Liver Transplantation Prevents Progressive Neurological Impairment in Argininemia
  • Motor and Speech Disorders in Classic Galactosemia
  • Defect of Cobalamin Intracellular Metabolism Presenting as Diabetic Ketoacidosis: A Rare Manifestation
  • Cerebral Magnetic Resonance Spectroscopy Demonstrates Long-Term Effect of Bone Marrow Transplantation in a-Mannosidosis
  • Early Cardiac Changes in Children with Anderson-Fabry Disease
  • Development of a Scoring System to Evaluate the Severity of Craniocervical Spinal Cord Compression in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome)
  • Outcome of Perinatal Hypophosphatasia in Manitoba Mennonites: A Retrospective Cohort Analysis
  • Novel Deletion Mutation Identified in a Patient with Late-Onset Combined Methylmalonic Acidemia and Homocystinuria, cblC Type
  • Substrate Reduction Therapy in Four Patients with Milder CLN1 Mutations and Juvenile-Onset Batten Disease Using Cysteamine Bitartrate
  • A Clinically Severe Variant of ß-Mannosidosis, Presenting with Neonatal Onset Epilepsy with Subsequent Evolution of Hydrocephalus
  • A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome
  • Selective Screening for Lysosomal Storage Diseases with Dried Blood Spots Collected on Filter Paper in 4,700 High-Risk Colombian Subjects
  • Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases
  • Spondyloepiphyseal Dysplasias and Bilateral Legg-Calveʹ-Perthes Disease: Diagnostic Considerations for Mucopolysaccharidoses
  • Severe Neonatal Metabolic Decompensation in Methylmalonic Acidemia Caused by CblD Defect
  • Socio-emotional Problems in Children with CDG
  • Metabolic Profiling of Total Homocysteine and Related Compounds in Hyperhomocysteinemia: Utility and Limitations in Diagnosing the Cause of Puzzling Thrombophilia in a Family
  • Fatty Acid Oxidation Disorders in a Chinese Population in Taiwan.
1 online resource (vii, 172 p.) : ill. (some col.) digital
Includes bibliographical references.
Series Statement
JIMD Reports, 2192-8304 ; v.11
JIMD reports ; v. 11
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Available online as viewed 9/18/2013
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