JIMD reports. Volume 38 (2018)

• 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: Morava, Eva; Baumgartner, Matthias R; Patterson, Marc; Rahman, Shamima; Zschocke, Johannes; Peters, Verena
• Contents: Intro; Contents; First Successful Conception Induced by a Male Cystinosis Patient; Abstract; Introduction; Case Report; Discussion; Take-Home Message; Details of the Contributions of Individual Authors; Competing Interest Statement; Details of Funding; Details of Ethical Approval; References; Glutaric Acidemia Type 1: A Case of Infantile Stroke; Abstract; Introduction; Case; Discussion; Details of the Contributions of Individual Authors; The Name of the Corresponding Author; A Competing Interest Statement; Conflict of Interest; Details of Funding; Ethics Statements; References. Treatment of Depression in Adults with Fabry DiseaseAbstract; Introduction; Methods; Measures; Data Analysis; Results; Primary Results; Psychological Symptoms; Quality of Life; Pain; Discussion; One Sentence Take-Home Message; Contributions of Individual Authors; Conflicts of Interest; Funding Source; Informed Consent; References; Mutations in GMPPB Presenting with Pseudometabolic Myopathy; Abstract; Introduction; Case Report; Discussion; Take Home Message; Compliance With Ethics Guidelines; Conflict of Interest; Informed Consent; Author Contributions; References. Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene MutationsAbstract; Introduction; Methods; Patients; Muscle Biopsy; Biochemical Analysis; Genetic Analysis; Case Reports; Patient 1; Patient 2; Patient 3; Patient 4; Patient 5; Patient 6; Results; Patients; Muscle Imaging; Genetic Analysis; Discussion; Synopsis; Conflict of Interest; Informed Consent; Animal Rights; Details of the Contribution of Individual Authors; References; Successful Management of Pregnancies in Patients with Inherited Disorders of Ketone Body Metabolism; Abstract; Introduction; Case 1; Case 2. DiscussionSynopsis; Details of the Contributions of Individual Authors; References; Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Aga ... ; Abstract; Introduction; Methods; Results; Discussion; Conclusions; Synopsis; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Author Contributions; Financial Relationships for the Work Under Consideration for Publication; Relevant Financial Activities Outside the Submitted Work; References. Ketone Bodies as a Possible Adjuvant to Ketogenic Diet in PDHc Deficiency but Not in GLUT1 DeficiencyAbstract; Introduction; Patients and Methods; Patients; GLUT1-DS Patients; PDHD Patients; Methods; Treatments; Ketone Bodies, Lactate, and PDHc Activity Measurement; In Vitro Oxidation Rate Measurement; Results; Clinical Follow-Up; Biological Follow-Up; In Vitro Study of 3-Hydroxybutyrate and Glucose Oxidation Ability in PDHD Fibroblasts; Discussion; Take-Home Message; Contribution of Individual Authors; Corresponding Author; Competing Interest Statement; Funding.
• Publisher Details: Berlin, Germany : Springer
• Publication Date: 2018
• Extent: 1 online resource
• 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; 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 book; Electronic books
• Languages: English
• ISBNs: 9783662566107; 3662566109
• Related ISBNs: 9783662566091; 3662566095
• Notes: Note: Online resource; title from PDF title page (SpringerLink, viewed April 3, 2018).
• 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.