Intro; Contents; Acute Pancreatitis Secondary to Severe Hypertriglyceridaemia in a Patient with Type 1a Glycogen Storage Disease: Emergent Use ...; Abstract; Introduction; Patient Report; Discussion; Conclusion; Compliance with Ethics Guidelines; References; A Third Case of Glycogen Storage Disease IB and Giant Cell Tumour of the Mandible: A Disease Association or Iatrogenic Complic...; Abstract; Introduction; Case Report; Discussion; Conclusion; Conflict of Interest; Informed Consent; Contributions of the Individual Authors; References

Cardiopulmonary Exercise Testing Reflects Improved Exercise Capacity in Response to Treatment in Morquio A Patients: Results o...Abstract; Introduction; Methods; Study Design; Evaluation of Endurance and Exercise Capacity; Statistical Methods; Results; Patient Characteristics; Endurance Outcomes; CPET Outcomes; Correlations Between Endurance Measures and Peak VO2 (Supportive online material 5); Discussion; Conclusions; Take-Home Message; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Animal Rights; Details of the Contributions of Individual Authors; References

EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondria...Abstract; Introduction; Materials and Methods; Clinical Summary; Respiratory Chain Enzyme Activities; Whole Genome Sequencing; cDNA Synthesis Studies; Results; Discussion; Key Messages; Details of the Contributions of Individual Authors; Compliance with Ethical Standards; Conflict of Interest; Ethics; References; Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q...; Abstract; Introduction

CasesDiscussion; Take-Home Message; Contributions of Individual Authors; Corresponding Author; Competing Interest Statement; Details of Funding; Details of Ethics Approval; Patient Consent Statement; References; The Validity of Bioelectrical Impedance Analysis to Measure Body Composition in Phenylketonuria; Abstract; Introduction; Participants and Methods; Anthropometry and BIA Measurements; Criterion Method: Deuterium Isotopic Dilution; Statistical Analysis; Results; Total Body Water; Fat-Free Mass Determination; Discussion; Synopsis; Contributions of Individual Authors; Corresponding Author

Competing Interest StatementDetails of Funding; Details of Ethics Approval; Patient Consent Statement; References; Effect of Storage Conditions on Stability of Ophthalmological Compounded Cysteamine Eye Drops; Abstract; Introduction; Methods; Formulation; Cysteamine Measurement; Statistical Analysis; Results; Discussion; Conclusion; Synopsis; Details of the Contributions of Individual Authors; Name of One Author Who Serves as Guarantor; A Competing Interest Statement; Details of Funding; Details of Ethics Approval and Patient Consent; References