Note: Intro -- Contents -- Friedreich Ataxia in Classical Galactosaemia -- Abstract -- Introduction -- Methods -- Results -- Discussion -- Conclusion -- Take-Home Message -- Compliance with Ethics Guidelines -- Conflicts of Interest -- Informed Consent -- Contributions of Individual Authors -- References -- Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation -- Abstract -- Introduction -- Clinical Report -- Mutation Analysis -- Discussion -- Take-Home Message -- Details of the Contributions of Individual Authors -- Conflict of Interest -- Informed Consent -- References -- Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1? -- Abstract -- Introduction -- Methods -- Sample Collection -- Whole-Exome Sequencing -- Respiratory Chain Complex Analysis -- Case Reports -- Patient II:1 -- Investigations -- Patient II:2 -- Results -- Exome Sequencing -- Respiratory Chain Complex and RMND1 Protein Analyses -- Discussion -- Financial Support -- Synopsis -- Compliance with Ethics Guidelines -- Conflict of Interest -- Informed Consent -- Author Contributions -- References -- TMEM165 Deficiency: Postnatal Changes in Glycosylation -- Abstract -- Introduction -- Material and Methods -- Mutation Analysis -- Isoelectric Focusing (IEF) -- Immunoprecipitation and SDS-PAGE -- Nano-electrospray Ionization Time-of-Flight Mass Spectrometry (nanoESI-TOF MS) -- MALDI Time-of-Flight Mass Spectrometry (MALDI-TOF MS) -- 2D Gel Electrophoresis -- Results -- Clinical Data -- Mutation Analysis of TMEM165 -- IEF and SDS-PAGE -- Mass Spectrometry -- 2D Gel Electrophoresis -- Discussion -- Take-Home Message -- Compliance with Ethic Guidelines -- Conflict of Interest -- Informed Consent -- Details of the Contributions of Individual Authors -- References. , Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum -- Abstract -- Introduction -- Clinical Report -- Materials and Methods -- Array CGH -- Urine Sample Preparation -- 1H-NMR Spectroscopy -- TALDO1 Sequencing -- Discussion -- Synopsis -- Compliance with Ethical Guidelines -- Conflict of Interest -- Informed Consent -- References -- Pearson Syndrome: A Retrospective Cohort Study from the Marrow Failure Study Group of A.I.E.O.P. (Associazione Italiana Emato-... -- Abstract -- Introduction -- Patients and Methods -- Results -- Clinical Phenotype -- Biochemical Profile -- Treatments -- Survival -- Discussion -- Conclusion -- Take-Home Message -- Funding Source -- Financial Disclosure -- Compliance with Ethical Guidelines -- Conflict of Interest -- Contributor´s Statements -- References -- Bioimpedance Analysis as a Method to Evaluate the Proportion of Fatty and Muscle Tissues in Progressive Myopathy in Pompe Dise... -- Abstract -- Introduction -- Material and Methods -- Study Subjects -- Study Design -- BIA Analysis -- MRI Analysis -- Ethical Consideration -- Results -- BIA -- MRI -- BIA vs. MRI -- Discussion -- Conclusions -- Compliance with Ethics Guidelines -- Conflict of Interest -- References -- Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels -- Abstract -- Introduction -- Methods -- Results -- Discussion -- Synopsis -- Compliance with Ethics Guidelines -- Conflict of Interest -- Informed Consent -- Details of the Contributions of Individual Authors -- References -- Mucopolysaccharidosis (MPS) Physical Symptom Score: Development, Reliability, and Validity -- Abstract -- Introduction -- Methods -- Subjects -- Procedures -- Development of the PSS Scale -- Reliability -- Validation Measures -- Statistical Analysis -- Results -- Discussion -- Synopsis of the Article. , Compliance with Ethics Guidelines -- Contributions of Individual Authors -- Corresponding and Responsible Author -- Conflict of Interest -- Informed Consent -- References -- Energy Expenditure in Chilean Children with Maple Syrup Urine Disease (MSUD) -- Abstract -- Introduction -- Methods -- Results -- Discussion -- Conclusion -- Funding -- Compliance with Ethics Guidelines -- Conflict of Interest -- Informed Consent -- Details of the Contributions of Individual Authors -- References -- News on Clinical Details and Treatment in PGM1-CDG -- Abstract -- Introduction -- Materials and Methods -- Patients -- IEF (Isoelectric Focusing) and SDS-PAGE (Sodium Dodecyl Sulfate Polyacrylamide Gel Electrophoresis) -- HPLC (High-Performance Liquid Chromatography) -- Cell Culture -- Cell Isolation -- Gene and Protein Analysis -- Functional Tests: Glucagon Test and Galactose Kinetics -- Results -- Analysis of Serum TF Glycosylation -- Mutation analysis -- Glucagon Test and Galactose Kinetics -- Discussion -- Compliance with Ethics Guidelines -- Author Contributions -- Conflict of Interest -- Informed Consent -- References -- Safety and Efficacy of Chronic Extended Release Cornstarch Therapy for Glycogen Storage Disease Type I -- Abstract -- Introduction -- Subjects and Methods -- Subjects -- Study Design -- Statistical Analysis -- Results -- Overnight Challenge -- Long-Term Safety and Efficacy Follow-Up -- Discussion -- Compliance with Ethics Guidelines -- Conflict of Interest -- Informed Consent -- Details of the Contributions of Individual Authors -- References -- Normal Neurodevelopmental Outcomes in PNPO Deficiency: A Case Series and Literature Review -- Abstract -- Introduction -- Case Reports -- Case 1 -- Case 2 -- Case 3 -- Case 4 -- Discussion -- Compliance with Ethics Guidelines -- Conflict of Interest -- Informed Consent -- Author Contributions. , References -- Screening for Attenuated Forms of Mucopolysaccharidoses in Patients with Osteoarticular Problems of Unknown Etiology -- Abstract -- Introduction -- Materials and Methods -- Results and Discussion -- Conclusion -- Synopsis -- Contributions of the Individual Authors -- Compliance with Ethics Guidelines -- Competing Interest Statement -- Details of Funding for All Authors -- Details of Ethics Approval -- References -- Causes of Death in Adults with Mitochondrial Disease -- Abstract -- Introduction -- Mitochondrial Function and Mitochondrial Disease -- Mortality in Mitochondrial Disease -- Methods -- Results -- MELAS -- Chronic Progressive External Ophthalmoplegia (CPEO) -- Kearns-Sayre Syndrome -- MERRF -- Heterogeneous Phenotypes -- Discussion -- Conclusion and Recommendations -- Take-Home Messages -- Compliance with Ethics Guideline -- Conflict of Interest -- Contributions of Individual Authors -- Human and Animal Rights and Informed Consent -- References.