JIMD Reports, Volume 42

Chapter 64 Acute Pancreatitis Secondary to Severe Hypertriglyceridaemia in a Patient with Type 1a Glycogen Storage Disease: Emergent Use of Plasmapheresis

Chapter 67 A Third Case of Glycogen Storage Disease IB and Giant Cell Tumour of the Mandible: A Disease Association or Iatrogenic Complication of Therapy

Chapter 70 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

Chapter 71 EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders

Chapter 73 Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q10 Deficiency in a Female Sib-Pair

Chapter 75 The Validity of Bioelectrical Impedance Analysis to Measure Body Composition in Phenylketonuria

Chapter 77 Effect of Storage Conditions on Stability of Ophthalmological Compounded Cysteamine Eye Drops

Chapter 78 Mitochondrial Disease in Children: The Nephrologist’s Perspective

Chapter 79 Leber Hereditary Optic Neuropathy and Longitudinally Extensive Transverse Myelitis

Chapter 83 Long-Term Systematic Monitoring of Four Polish Transaldolase Deficient Patients

Chapter 85 Characterization of Phenyalanine Hydroxylase Gene Mutations in Chilean PKU Patients

Chapter 86 Beneficial Effect of BH4 Treatment in a 15-Year-Old Boy with Biallelic Mutations in DNAJC12

Chapter 88 Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review

Chapter 89 Mitochondrial Encephalopathy: First Portuguese Report of a VARS2 Causative Variant