JIMD reports. Volume 24 (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 R; Morava, E; Patterson, M; Rahman, Shamima; Peters, V
• Contents: Part I Reports on Alkaptonuria; Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel Mutations; Abstract; Introduction; Material and Methods; Subjects; Mutation Analysis of the HGD Gene; Results and Discussion; Conclusion; Compliance with Ethics Guidelines; Informed Consent; Details of the Contributions of Individual Authors; References; Metabolic Effects of Increasing Doses of Nitisinone in the Treatment of Alkaptonuria; Abstract; Introduction; Methods; Patient Enrollment; Sample Storage; Sample Preparation. Sample Acquisition MethodsStatistical Analysis; Results; HGA in Urine; Tyrosine and NTBC in Plasma; Untargeted Metabolomics Analysis; Patient Symptoms; Discussion; Synopsis; Compliance with Ethics Guidelines; Conflicts of Interest; Informed Consent; Author Contributions; References; Relationship Between Serum Concentrations of Nitisinone and Its Effect on Homogentisic Acid and Tyrosine in Patients with Alka ... ; Abstract; Introduction; Materials and Methods; Patients; Study Design and Treatments; Measurements; Calculations and Statistics; Results; Demographics; Nitisinone Pharmacokinetics. Relationship Between Nitisinone Exposure and the Effect on HGA and TyrosineDiscussion; Synopsis (Take-Home Message); Compliance with Ethics Guidelines; Conflict of Interest; Contributors; References; Investigating the Robustness and Diagnostic Potential of Extracellular Matrix Remodelling Biomarkers in Alkaptonuria; Abstract; Introduction; Methods; Clinical Cohort; Measurements; Robustness Analysis; Creatinine Assessment; Assessment of HGA Interference with Hydroxyperoxidase-Based ELISAs; Results; Robustness Analysis of the Biomarkers; Interference of HGA with Enzyme-Based Assays. Diagnostic Markers of ECM Remodelling in AKUDiscussion; Conclusions; Synopsis; Compliance with Ethics Guidelines; Conflict of Interests; Informed Consent; Details of the Contributions of Individual Authors; References; Age-Related Deviation of Gait from Normality in Alkaptonuria; Abstract; Introduction; Participants and Methods; Results; Discussion; Conclusions; Take-Home Message; Compliance with Ethics Guidelines; Conflict of interests; Informed Consent; Contributions of Individual Authors; References; Nitisinone Arrests but Does Not Reverse Ochronosis in Alkaptonuric Mice; Abstract. IntroductionMaterials and Methods; Mice; Sample Preparation; Chromatographic Conditions; Midlife Nitisinone Treatment; Nitisinone Dose-Response; Histological Analysis; Quantification of Pigmented Chondrons; Statistical Analyses; Results; Discussion; Synopsis; Compliance with Ethics Guidelines; Conflicts of Interest; Animal Rights; Author Contributions; References; The Pigment in Alkaptonuria Relationship to Melanin and Other Coloured Substances: A Review of Metabolism, Composition and Che ... ; Abstract; Introduction; Background; Melanins; Melanin Types.
• Publisher Details: Heidelberg : Springer
• Publication Date: 2015
• Extent: 1 online resource (vi, 128 pages), illustrations (some color)
• 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; Metabolism, Inborn Errors; Medical -- Endocrinology & Metabolism; Medical -- Pediatrics; Science -- Life Sciences -- Biology -- Molecular Biology; Metabolism; Paediatric medicine; Medical research; Human genetics; Metabolic diseases; Pediatrics; Medical -- Genetics; Medical genetics; Electronic books; Electronic books
• Languages: English
• ISBNs: 9783662482278; 3662482274; 9783662532782; 3662532786
• Related ISBNs: 9783662482261; 3662482266
• Notes: Note: Online resource; title from PDF title page (SpringerLink, viewed September 29, 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.