Intro; Contents; Assessment of the Effect of Once Daily Nitisinone Therapy on 24-h Urinary Metadrenalines and 5-Hydroxyindole Acetic Acid Excre...; Abstract; Introduction; Materials and Methods; Subjects; Analytical Methods; Urine Metadrenalines; Urine 5-Hydroxyindole Acetic Acid; Serum Tyrosine and Phenylalanine; Statistical Analysis; Results; Discussion; Conclusion; Compliance with Ethics Guidelines; Conflict of Interest; References; Severe Hyperammonemic Encephalopathy Requiring Dialysis Aggravated by Prolonged Fasting and Intermittent High Fat Load in a Ra...; Abstract; Background

SubjectGenomic DNA Preparation and Whole-Exome Sequencing; Case History; Discussion; Conclusion; Synopsis; Contributions of Individual Authors; Guarantor of This Manuscript; Declaration of Competing Interest; Fundings; Ethics Approval; Consent; References; Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease; Abstract; Introduction; Case; Discussion; Synopsis; General Rules; Details of the Contributions of Individual Authors; The Name of the Corresponding Author; A Competing Interest Statement; References

Expert Opinion vs Patient Perspective in Treatment of Rare Disorders: Tooth Removal in Lesch-Nyhan Disease as an ExampleAbstract; Introduction; Methods; Results; Conclusions; Synopsis; Details of Contributions of Individual Authors and Corresponding Author; Funding and Conflict of Interest; Competing Interest Statement; Compliance with Ethics Guidelines and Patient Consent; Financial Disclosures Related to the Manuscript; References; Two Uneventful Pregnancies in a Woman with Glutaric Aciduria Type 1; Abstract; Introduction; Case; Pregnancy 1; Pregnancy 2; Discussion

The Effect of GA1 on PregnancyIntra-familial Variability; Significance of Genetic Mutations Analysis; Synopsis; General Rules; Details of the Contributions of Individual Authors; The Name of the Corresponding Author; A Competing Interest Statement; Details of Funding; Details of Ethics Approval; A Patient Consent Statement; Documentation of Approval from the Institutional Committee for Care and Use of Laboratory Animals (or Comparable Committee); Guarantor; References; The Influence of Patient-Reported Joint Manifestations on Quality of Life in Fabry Patients; Abstract; Introduction

MethodologyPatients; Study Design; Statistical Analysis; Results; Demographics and Disease Characteristics; Joints Manifestations History; Quality of Life; Assessment of Physical Function; Discussion; Conclusion; Compliance with Ethics Guidelines; Conflict of Interest; Informed Consent; Animal Rights; Details of the Contributions of Individual Authors; Competing Interests; Funding; References; Probable Diagnosis of a Patient with Niemann-Pick Disease Type C: Managing Pitfalls of Exome Sequencing; Abstract; Case Report; Discussion; Synopsis; Compliance with Ethics Guidelines