JIMD reports. Volume 23 ([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: 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. 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.
• Publisher Details: Heidelberg : Springer
• Publication Date: 2015
• Copyright Date: 2015
• Extent: 1 online resource (vi, 127 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: 9783662474679; 3662474670; 3662474662; 9783662474662
• Related ISBNs: 9783662474662
• Notes: Note: Includes bibliographical references.; Note: Online resource; title from PDF title page (EBSCO, viewed July 1, 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.