JIMD Reports, Volume 24 [[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 (126 p.)
• Disciplina: 616.39
• Soggetto topico: Human physiology; Metabolic diseases; Pediatrics; Human Physiology; Metabolic Diseases
• Persona (resp. second.): ZschockeJohannes; BaumgartnerMatthias; MoravaEva; PattersonMarc; RahmanShamima; PetersVerena
• Note generali: Description based upon print version of record.
• Nota di bibliografia: Includes bibliographical references.
• Nota di contenuto: 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 ; Biosynthetic Pathways of Eumelanin and Pheomelanin
• 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, Volume 24
• ISBN: 3-662-48227-4
• Formato: Materiale a stampa
• Livello bibliografico: Monografia
• Lingua di pubblicazione: Inglese
• Record Nr.: 9910298266503321
• Lo trovi qui: Univ. Federico II
• Serie: JIMD Reports, . 2192-8304 ; ; 24