JIMD reports. Volume 27 (2016)

• Record Type: Book
• Further Information: Note: Eva Morava, editor-in-chief ; Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, editors ; Verena Peters, managing editor.
• Editors: Zschocke, Johannes; Baumgartner, Matthias; Morava, Eva; Patterson, Marc; Rahman, Shamima; Peters, Verena
• Contents: Detailed Biochemical and Bioenergetic Characterization of FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion; Abstract; Introduction; Materials and Methods; Subject Recruitment and Clinical Investigations; High-Resolution Respirometry; Micro-oximetry; Measurement of Glutathione and Glutathione Disulfide; Characterization of Mitochondrial Content, Network, and Inner Membrane Potential; Assessment of Cell Viability; Results; Discussion; Conclusions; One Sentence Summary; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Authors ́Contributions. Cell Number and Viability Detection Using DAPI as Nuclear StainingThiol Redox Status (TRS) Measurement Using VitaBright-48; Mitochondrial Membrane Potential (MMP) Analysis with JC-1; Measurement of Mitochondrial Superoxide Levels (MSLs) with MitoSOX; Confocal Laser Scanning Microscope (CLSM); Statistical Analysis; Results; Analysis of the Intraassay and Interassay Variation; Cell Number and Viability Analysis; Thiol Redox Status (TRS) Study; Mitochondrial Membrane Potential (MMP) Analysis; Mitochondrial Superoxide Level (MSL) Analysis. Analysis of HDFs from Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD) PatientsDiscussion; Take-Home Message; Compliance with Ethical Guidelines; Conflict of Interest; Informed Consent; Details of the Contributions of Individual Authors; References; SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the ... ; Abstract; Introduction; Methods; Patients; DNA Sequence Analysis; Multiplex Ligation-Dependent Probe Amplification; Results; Clinical Report; Metabolic Findings; Genetic Investigations. Review of Patients Reported in the LiteratureDiscussion; Synopsis; Compliance with Ethics Guidelines; Competing Interests; Informed Consent; Authors ́Contribution; References; Diagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MK ... ; Abstract; Introduction; Methods; Analysis of Urinary Mevalonic Acid; Analysis of Mevalonate Kinase Genes; Data Analysis; Results; Test Results; Clinical Features; Patients with Two MVK Mutations; Patients with Elevated Urinary Mevalonic Acid, Without MVK Mutations.
• Publisher Details: Heidelberg : Springer
• Publication Date: 2016
• Extent: 1 online resource (vi, 112 pages)
• Subjects: 616.3/9042; 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; HEALTH & FITNESS / Diseases / General; MEDICAL / Clinical Medicine; MEDICAL / Diseases; MEDICAL / Evidence-Based Medicine; MEDICAL / Internal Medicine; 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
• Languages: English
• ISBNs: 9783662504093; 3662504081; 9783662504086
• Related ISBNs: 366250409X; 9783662504086
• Notes: Note: Includes bibliographical references.; Note: Online resource; title from PDF title page (SpringerLink, viewed May 9, 2016).
• 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.