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JIMD Reports: Volume 11 [electronic book]

Johannes Zschocke, K. Michael Gibson, editors-in-chief ; Garry Brown, Eva Morava, editors
Format
EBook; Book; Online
Published
Berlin : Springer, 2013.
Language
English
Series
JIMD Reports
JIMD Reports
ISBN
9783642373282 (electronic bk.), 3642373283 (electronic bk.), 9783642373275
Access Restriction
Electronic access is available for UVA students, faculty, staff, and affiliates only. IP address verification required.
Contents
  • 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.
Description
1 online resource (vii, 172 p.) : ill. (some col.) digital
Notes
Includes bibliographical references.
Series Statement
JIMD Reports, 2192-8304 ; v.11
JIMD reports ; v. 11
Other Forms
Available online as viewed 9/18/2013
Copyright Not EvaluatedCopyright Not Evaluated
Technical Details
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  • Staff View

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    a| 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.
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