JIMD Reports, Volume 41

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.