JIMD Reports, Volume 23 [[electronic resource] /] / edited by Johannes Zschocke, Matthias Baumgartner, Eva Morava, Marc Patterson, Shamima Rahman, Verena Peters

• Pubblicazione: Berlin, Heidelberg : , : Springer Berlin Heidelberg : , : Imprint : Springer, , 2015
• Edizione: 1st ed. 2015.
• Descrizione fisica: 1 online resource (128 p.)
• Disciplina: 616.39042
• Soggetto topico: Human genetics; Metabolic diseases; Pediatrics; Human physiology; Human Genetics; Metabolic Diseases; Human Physiology; Genètica humana; Trastorns del metabolisme; Pediatria; Fisiologia humana
• Soggetto genere / forma: Llibres electrònics
• Persona (resp. second.): ZschockeJohannes; BaumgartnerMatthias; MoravaEva; PattersonMarc; RahmanShamima; PetersVerena
• 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; Arginine Functionally Improves Clinically Relevant Human Galactose-1-Phosphate Uridylyltransferase (GALT) Variants Expressed i...; Abstract; Introduction; Materials and Methods; Cloning and Mutagenesis; Cell Cultures and Growth Media; Results and Discussion; Effect of Carbon Sources upon the Growth of Non-transformed and Wild-Type hGALT-Transformed E. coli DeltagalT; Galactose Sensitivity of Bacteria Expressing Different hGALT Variants; Arginine Rescue of the hGALT Variants; Conclusion; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent ; Animal RightsContributions; References; Effect and Tolerability of Agalsidase Alfa in Patients with Fabry Disease Who Were Treatment Naïve or Formerly Treated with Ag...; Abstract; Introduction; Patients and Methods; Treatment Protocol Design and Data Collection; Clinical and Pharmacodynamic Parameters; Data and Statistical Analyses; Results; Safety and Tolerability; Immunogenicity and Other Safety Parameters; Renal Function and Cardiac Structure/Function; Plasma and Urine Biomarkers; Discussion; Synopsis; Compliance with Ethics Guidelines; Conflicts of Interest; Patient Consent Statement ; Details of the Contributions of Individual AuthorsReferences; Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3beta,5α,6beta-Triol and Further Insight into t...; Abstract; Introduction; Materials and Methods; LC-MS/MS; GC/MS; Mutation Analysis; Filipin Staining; Chitotriosidase Activity; Results; Case Reports; Patient 1; Patient 2; Patient 3; Discussion; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Details of the Contributions of Individual Authors; References ; The Modulatory Effects of the Polymorphisms in GLA 5-Untranslated Region Upon Gene Expression Are Cell-Type SpecificAbstract; Introduction; Materials and Methods; Synopsis of the Laboratory Protocol; Statistical Analyses; Results; Discussion; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest Declaration; References; The Kuvan Adult Maternal Paediatric European Registry (KAMPER) Multinational Observational Study: Baseline and 1-Year Data in ...; Abstract; Introduction; Methods; Study Design; Study Population; Study Variables; Assessments; Study Size; Minimizing Bias ; Statistical AnalysesResults; Patients; BH4 Responsiveness; Safety; Sapropterin Treatment; Blood Phenylalanine Concentrations at Baseline, 6 Months and 12 Months; Natural Protein and Actual Phenylalanine Intake at Baseline, 6 Months and 12 Months; Growth; Discussion; Synopsis; Compliance with Ethics Guidelines; Conflicts of Interest; Informed Consent; Contributions of Individual Authors; References; Postmortem Findings and Clinical Correlates in Individuals with Infantile-Onset Pompe Disease; Abstract; Introduction; Materials and Methods; Results; Patient 1; Postmortem Examination ; Smooth Muscle
• 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.
• Titolo autorizzato: JIMD Reports
• ISBN: 3-662-47467-0
• Formato: Materiale a stampa
• Livello bibliografico: Monografia
• Lingua di pubblicazione: Inglese
• Record Nr.: 9910300174003321
• Lo trovi qui: Univ. Federico II
• Serie: JIMD Reports, . 2192-8304 ; ; 23