JIMD Reports. Volume 11 /
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| Imprint: | Berlin : Springer, 2013. |
|---|---|
| Description: | 1 online resource (vii, 172 pages) : illustrations (some color). |
| Language: | English |
| Series: | JIMD Reports, 2192-8304 ; v.11 JIMD Reports ; v. 11. |
| Subject: | |
| Format: | E-Resource Book |
| URL for this record: | http://pi.lib.uchicago.edu/1001/cat/bib/9852411 |
Table of 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 / Filippo Vairo, Cristina Netto, Alicia Dorneles
- Expanding the Spectrum of Methylmalonic Acid-Induced Pallidal Stroke: First Reported Case of Metabolic Globus Pallidus Stroke in Transcobalamin II Deficiency / Lance Harrington Rodan, Navin Mishra, Ivanna Yau
- A Large Intragenic Deletion in the ACADM Gene Can Cause MCAD Deficiency but is not Detected on Routine Sequencing / Claire Searle ... et al.
- Infantile Hypophosphatasia Secondary to a Novel Compound Heterozygous Mutation Presenting with Pyridoxine-Responsive Seizures / Dina Belachew ... et al.
- Liver Transplantation Prevents Progressive Neurological Impairment in Argininemia / E. Santos Silva ... et al.
- Motor and Speech Disorders in Classic Galactosemia / Nancy L. Potter, Yves Nievergelt, Lawrence D. Shriberg
- Defect of Cobalamin Intracellular Metabolism Presenting as Diabetic Ketoacidosis: A Rare Manifestation / Sheetal Sharda, Suresh Kumar Angurana, Mandeep Walia
- Cerebral Magnetic Resonance Spectroscopy Demonstrates Long-Term Effect of Bone Marrow Transplantation in α-Mannosidosis / Else R. Danielsen, Allan M. Lund, Carsten Thomsen
- Early Cardiac Changes in Children with Anderson-Fabry Disease / Stepan Havranek ... et al.
- Development of a Scoring System to Evaluate the Severity of Craniocervical Spinal Cord Compression in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome) / Christian Möllmann, Christian G. Lampe, Wibke Müller-Forell
- Outcome of Perinatal Hypophosphatasia in Manitoba Mennonites: A Retrospective Cohort Analysis / Edward C. W. Leung, Aizeddin A. Mhanni, Martin Reed
- Novel Deletion Mutation Identified in a Patient with Late-Onset Combined Methylmalonic Acidemia and Homocystinuria, cblC Type / Paul Hoff Backe, Mari Ytre-Arne, Åsmund Kjendseth Røhr
- Substrate Reduction Therapy in Four Patients with Milder CLN1 Mutations and Juvenile-Onset Batten Disease Using Cysteamine Bitartrate / M. Gavin ... et al.
- A Clinically Severe Variant of β-Mannosidosis, Presenting with Neonatal Onset Epilepsy with Subsequent Evolution of Hydrocephalus / A Broomfield ... et al.
- A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome / Yuxin Fan ... et al.
- Selective Screening for Lysosomal Storage Diseases with Dried Blood Spots Collected on Filter Paper in 4,700 High-Risk Colombian Subjects / Alfredo Uribe, Roberto Giugliani
- Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases / Pauline Gaignard, Emmanuel Gonzales, Oanez Ackermann
- Spondyloepiphyseal Dysplasias and Bilateral Legg-Calvé-Perthes Disease: Diagnostic Considerations for Mucopolysaccharidoses / Nancy J. Mendelsohn, Timothy Wood, Rebecca A. Olson
- Severe Neonatal Metabolic Decompensation in Methylmalonic Acidemia Caused by CblD Defect / R. Parini ... et al.Download PDF (197KB) View Chapter
- Socio-emotional Problems in Children with CDG / K. F. E. van de Loo ... et al.
- Metabolic Profiling of Total Homocysteine and Related Compounds in Hyperhomocysteinemia: Utility and Limitations in Diagnosing the Cause of Puzzling Thrombophilia in a Family / Sally P. Stabler ... et al.
- Fatty Acid Oxidation Disorders in a Chinese Population in Taiwan / Yin-Hsiu Chien ... et al.