JIMD Reports, Volume 41
Springer Berlin (Verlag)
978-3-662-58080-6 (ISBN)
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 SubcomponentFeatures.- 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.
| Erscheinungsdatum | 28.09.2018 |
|---|---|
| Reihe/Serie | JIMD Reports |
| Zusatzinfo | VI, 131 p. 22 illus., 13 illus. in color. |
| Verlagsort | Berlin |
| Sprache | englisch |
| Maße | 210 x 279 mm |
| Gewicht | 350 g |
| Themenwelt | Medizin / Pharmazie ► Medizinische Fachgebiete |
| Studium ► 2. Studienabschnitt (Klinik) ► Humangenetik | |
| Schlagworte | endocrinology • inherited metabolic diseases • medical genetics • Mendelian disorder • Metabolic disease • Pediatrics |
| ISBN-10 | 3-662-58080-2 / 3662580802 |
| ISBN-13 | 978-3-662-58080-6 / 9783662580806 |
| Zustand | Neuware |
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