JIMD Reports, Volume 22 [[electronic resource] /] / edited by Johannes Zschocke, Matthias Baumgartner, Eva Morava, Marc Patterson, Shamima Rahman, Verena Peters

• Record Nr.: UNINA9910300173903321
• Pubbl/distr/stampa: Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2015
• ISBN: 3-662-47453-0
• Edizione: [1st ed. 2015.]
• Descrizione fisica: 1 online resource (121 p.)
• Collana: JIMD Reports, , 2192-8304 ; ; 22
• Disciplina: 616.39042
• Soggetti: Human genetics; Metabolic diseases; Pediatrics; Human physiology; Human Genetics; Metabolic Diseases; Human Physiology; Genètica humana; Trastorns del metabolisme; Pediatria; Fisiologia humana; Llibres electrònics
• Lingua di pubblicazione: Inglese
• Formato: Materiale a stampa
• Livello bibliografico: Monografia
• Note generali: Description based upon print version of record.
• Nota di bibliografia: Includes bibliographical references at the end of each chapters.
• Nota di contenuto: 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; Design and Methods
• Sommario/riassunto: 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.