JIMD reports. Volume 22 ([2015])

• Record Type: Book
• Further Information: Note: Johannes Zschocke, editor-in-chief ; Matthias Baumgartner, Eva Morava, Marc Patterson, Shamima Rahman, editors ; Verena Peters, managing editor.
• Editors: Zschocke, Johannes; Baumgartner, Matthias; Morava, Eva; Patterson, Marc; Rahman, Shamima; Peters, Verena
• Contents: Innate and Adaptive Immune Response in Fabry Disease; Abstract; Introduction; Proinflammatory Pattern in Naive-Treatment FD Patients; Immune Adaptive Responses Against Agalsidase in Fabry Disease; Conclusion; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Animal Rights; Details of the Contributions of Individual Authors; References; Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism; Abstract; Introduction; Case Report; Discussion; Take-Home Message; Conflict of Interest; Informed Consent; Authors ́Contributions; References. Occurrence of Malignant Tumours in the Acute Hepatic PorphyriasAbstract; Introduction; Material and Methods; Patients and Questionnaire; Incidence and Prevalence of AHP and Relative Risk of HCC; Results; Questionnaire; Malignant Tumours; Incidence of AHP; Prevalence of AHP; Relative Risk of Developing HCC; Discussion; Synopsis; Author Contribution; Compliance with Ethics Guidelines; Conflict of Interest; References; Improvement in Bone Mineral Density and Architecture in a Patient with Gaucher Disease Using Teriparatide; Abstract; Introduction; Case Report; Results; Discussion; Synopsys. Compliance with Ethics GuidelinesConflict of Interest; Informed Consent; Author Contributions; References; Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium; Abstract; Introduction; Methods and Results; The Network ; The Patient Registry; Dissemination; Guideline Development; Evaluation; Discussion; Project Funding Mechanism; Ethical Review Process; Guidelines for Rare Diseases; Looking Forward: Towards a European Reference Network for Inherited Metabolic Diseases; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest. Informed ConsentDetails of the Contributions of Individual Authors; Animal Rights; References; Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy; Abstract; Introduction; Material and Methods; Molecular Studies; DNA Analysis; cDNA Analysis; Fibroblast Culture; Results; Mutation Analysis; Q39Lfs*14 Mutation Leads to Partial Nonsense-Mediated Decay in Fibroblasts; Discussion; Synopsis; Details of the Contributions of Individual Authors; Name of One Author Who Serves as Guarantor; Conflict of Interest; Compliance with Ethics Guidelines; References. Combined Sepiapterin Reductase and Methylmalonyl-CoA Epimerase Deficiency in a Second Patient: Cerebrospinal Fluid Polyunsatur ... Abstract; Introduction; Methods; Neurotransmitter Analysis in CSF; Molecular Analysis; GC-MS PUFA Analysis; Case Story; PUFA Analysis; Discussion; Conclusion; Take-Home Message; Disclosure; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Details of the Contributions of Individual Authors; References; Audit of the Use of Regular Haem Arginate Infusions in Patients with Acute Porphyria to Prevent Recurrent Symptoms; Abstract; Introduction.
• Publisher Details: Heidelberg : Springer
• Publication Date: 2015
• Copyright Date: 2015
• Extent: 1 online resource (vi, 120 pages)
• Subjects: 616.39042; Medicine; Metabolism, Inborn errors of; Metabolism -- Disorders; HEALTH & FITNESS -- Diseases -- General; MEDICAL -- Clinical Medicine; MEDICAL -- Diseases; MEDICAL -- Evidence-Based Medicine; MEDICAL -- Internal Medicine; Metabolism -- Disorders; Metabolism, Inborn errors of; Medical -- Endocrinology & Metabolism; Medical -- Pediatrics; Medical -- Physiology; Metabolism; Paediatric medicine; Physiology; Human genetics; Metabolic diseases; Pediatrics; Human physiology; Medical -- Genetics; Medical genetics; Electronic books
• Languages: English
• ISBNs: 9783662474532; 3662474530; 3662474522; 9783662474525
• Related ISBNs: 9783662474525
• Notes: Note: Includes bibliographical references.; Note: Online resource; title from PDF title page (EBSCO, viewed July 6, 2015).
• Access Rights: Legal Deposit; Only available on premises controlled by the deposit library and to one user at any one time; The Legal Deposit Libraries (Non-Print Works) Regulations (UK).
• Access Usage: Restricted: Printing from this resource is governed by The Legal Deposit Libraries (Non-Print Works) Regulations (UK) and UK copyright law currently in force.