JIMD Reports, Volume 42 (eBook)

Acute Pancreatitis Secondary to Severe Hypertriglyceridaemia in a Patient with Type 1a Glycogen Storage Disease: Emergent Use of Plasmapheresis.- A Third Case of Glycogen Storage Disease IB and Giant Cell Tumour of the Mandible: A Disease Association or Iatrogenic Complication of Therapy.- Cardiopulmonary Exercise Testing Reflects Improved Exercise Capacity in Response to Treatment in Morquio A Patients: Results of a 52-Week Pilot Study of Two Different Doses of Elosulfase Alfa.- EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders.- Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q10 Deficiency in a Female Sib-Pair.- The Validity of Bioelectrical Impedance Analysis to Measure Body Composition in Phenylketonuria.- Effect of Storage Conditions on Stability of Ophthalmological Compounded Cysteamine Eye Drops.- Leber Hereditary Optic Neuropathy and Longitudinally Extensive Transverse Myelitis.- Mitochondrial Disease in Children: The Nephrologist’s Perspective.- Characterization of Phenyalanine Hydroxylase Gene Mutations in Chilean PKU Patients.- Long-Term Systematic Monitoring of Four Polish Transaldolase Deficient Patients.- Coping Strategies, Stress, and Support Needs in Caregivers of Children with Mucopolysaccharidosis.- Beneficial Effect of BH4 Treatment in a 15-Year-Old Boy with Biallelic Mutations in DNAJC12.- Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.- Mitochondrial Encephalopathy: First Portuguese Report of a VARS2 Causative Variant.