| Description |
1 online resource (vii, 172 pages) : illustrations (some color) |
| Series |
JIMD Reports, 2192-8304 ; v. 11 |
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JIMD reports ; v. 11.
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| 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 |
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880-01 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 |
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880-01/(S 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 |
| Summary |
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder |
| Analysis |
stofwisselingsstoornissen |
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metabolic disorders |
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biomedische wetenschappen |
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biomedicine |
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pediatrie |
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paediatrics |
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fysiologie |
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physiology |
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humane genetica |
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human genetics |
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Medicine (General) |
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Geneeskunde (algemeen) |
| Bibliography |
Includes bibliographical references |
| Notes |
English |
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Online resource; title from PDF title page (SpringerLink, viewed September 5, 2013) |
| In |
Springer eBooks |
| Subject |
Metabolism, Inborn errors of -- Research
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Metabolism, Inborn errors of.
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Metabolism, Inborn Errors
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medicines (material)
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MEDICAL -- Endocrinology & Metabolism.
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MEDICAL -- Nutrition.
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HEALTH & FITNESS -- Diseases -- General.
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MEDICAL -- Clinical Medicine.
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MEDICAL -- Diseases.
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MEDICAL -- Evidence-Based Medicine.
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MEDICAL -- Internal Medicine.
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Médecine.
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Human genetics
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Human physiology
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Medicine
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Metabolism -- Disorders
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Pediatrics
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| Form |
Electronic book
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| Author |
Zschocke, Johannes, editor
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Gibson, Kenneth Michael, 1955- editor
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Brown, Garry, editor
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Morava, Eva, editor
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| ISBN |
9783642373282 |
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3642373283 |
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1306200652 |
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9781306200653 |
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3642373275 |
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9783642373275 |
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