JIMD reports. Focus issue: adults and metabolism / Volume 41, (2018)

• Record Type: Book
• Other Titles: Focus issue
• 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: Assessment of the Effect of Once Daily Nitisinone Therapy on 24-h Urinary Metadrenalines and 5-Hydroxyindole Acetic Acid Excretion in Patients with Alkaptonuria After 4 Weeks of Treatment.- Severe Hyperammonemic Encephalopathy Requiring Dialysis Aggravated by Prolonged Fasting and Intermittent High Fat Load in a Ramadan Fasting Month in a Patient with CPTII Homozygous Mutation.- Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease.- Expert Opinion vs Patient Perspective in Treatment of Rare Disorders: Tooth Removal in Lesch-Nyhan Disease as an Example.- Two Uneventful Pregnancies in a Woman with Glutaric Aciduria Type 1.- The Influence of Patient-Reported Joint Manifestations on Quality of Life in Fabry Patients.- Probable Diagnosis of a Patient with Niemann–Pick Disease Type C: Managing Pitfalls of Exome Sequencing.- Alkaptonuria Severity Score Index Revisited: Analysing the AKUSSI and Its Subcomponent Features.- Reduced Muscle Strength in Barth Syndrome May Be Improved by Resistance Exercise Training: A Pilot Study.- Cognitive Impairments and Subjective Cognitive Complaints in Fabry Disease: A Nationwide Study and Review of the Literature.- Effectiveness of Early Hematopoietic Stem Cell Transplantation in Preventing Neurocognitive Decline in Mucopolysaccharidosis Type II: A Case Series.- Parenting a Child with Phenylketonuria: An Investigation into the Factors That Contribute to Parental Distress.- P-Tau and Subunit c Mitochondrial ATP Synthase Accumulation in the Central Nervous System of a Woman with Hurler–Scheie Syndrome Treated with Enzyme Replacement Therapy for 12 Years.- Serum Amino Acid Profiling in Patients with Alkaptonuria Before and After Treatment with Nitisinone.- Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients.
• Publisher Details: Berlin, Germany : Springer
• Publication Date: 2018
• Extent: 1 online resource (vi, 129 pages)
• Subjects: 616.3/9042; Medicine; Metabolism, Inborn errors of; Metabolism -- Disorders; Human genetics; Metabolic diseases; Pediatrics; 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; Medical -- Genetics; Medical genetics; Electronic books
• Languages: English
• ISBNs: 9783662580813; 3662580810
• Related ISBNs: 9783662580806
• Notes: Note: Online resource; title from PDF title page (SpringerLink, viewed September 5, 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.