Note: Intro -- Contents -- Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in the Arylsulfatase B (ARSB) G... -- Abstract -- Introduction -- Materials and Methods -- Patients -- ARSB Mutation Analysis -- Sequence Variations Nomenclature -- Analysis of the New Missense Sequence Variation -- Results -- Genotype-Phenotype Correlation -- Family Studies -- Discussion -- One-Sentence Take-Home Message -- Details of the Contributions of Individual Authors -- Name of One Author Who Serves as Guarantor -- Details of Funding -- Details of Ethics Approval -- A Patient Consent Statement -- Conflict of Interest -- References -- Danon Disease Due to a Novel LAMP2 Microduplication -- Abstract -- Introduction -- Methods -- Results -- Discussion -- Acknowledgments -- Synopsis -- Compliance with Ethics Guidelines -- Author Contributions -- References -- Secondary Mitochondrial Respiratory Chain Defect Can Delay Accurate PFIC2 Diagnosis -- Abstract -- Introduction -- Case Reports -- Discussion -- One-Sentence Take-Home Message -- Contribution of Individual Authors -- References -- Newborn Screening for Hunter Disease: A Small-Scale Feasibility Study -- Abstract -- Introduction -- Materials and Methods -- DBS Samples -- Enzyme Assay -- Results and Discussion -- Conclusion -- Conflict of Interest -- Informed Consent -- Details of the Contributions of Individual Authors -- References -- Abnormalities in Glycogen Metabolism in a Patient with Alpers´ Syndrome Presenting with Hypoglycemia -- Abstract -- Introduction -- Case Report -- Discussion -- Competing Interest -- Synopsis -- Compliance with Ethics Guidelines -- Conflict of Interest -- Informed Consent -- Animal Rights -- Contributions of Individual Authors -- References -- Assessment of Basal Metabolic Rate and Nutritional Status in Patients with Gaucher Disease Type III. , Abstract -- Introduction -- Methods -- Results -- Basal Metabolic Rate -- Nutritional Status -- Discussion -- Conclusion -- Summary -- References -- Mutations in the Complex III Assembly Factor Tetratricopeptide 19 Gene TTC19 Are a Rare Cause of Leigh Syndrome -- Abstract -- Introduction -- Conclusions -- Compliance with Ethics Guidelines -- Informed Consent -- References -- Quality of Life in Adult Patients with Glycogen Storage Disease Type I: Results of a Multicenter Italian Study -- Abstract -- Introduction -- Methods -- Statistical Analysis -- Results -- Discussion -- Conclusions -- Compliance with Ethics Guidelines -- References -- The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobi... -- Abstract -- Introduction -- Materials and Methods -- Results -- Discussion -- Conflict of Interest -- Synopsis -- Compliance with Ethics Guidelines -- Details of Contributions of Individual Authors -- References -- Extraosseous Extension Caused by Epidural Hematoma in Gaucher Disease Mimicking Malignant Bone Tumor -- Abstract -- Introduction -- Case Report -- Discussion -- Conflict of Interest -- Informed Consent -- Contributions of Individual Authors -- References -- Thirteen Patients with MAT1A Mutations Detected Through Newborn Screening: 13 Years´ Experience -- Abstract -- Introduction -- Patients and Methods -- Results -- Discussion -- References -- AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate -- Abstract -- Introduction -- Methods -- Results -- Discussion -- One Sentence Synopsis -- Compliance with Ethics Guidelines -- References -- Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis -- Abstract -- Introduction -- Patients and Methods -- Patients -- Methods -- Results -- Discussion -- Synopsis. , Compliance with Ethics Guidelines -- Conflict of Interest -- Informed Consent -- Details of the Contributions of Individual Authors -- References -- Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age -- Abstract -- Introduction -- Case 1 -- Case 2 -- Case 3 -- Case 4 -- Case 5 -- Case 6 -- Case 7 -- Case 8 -- Discussion -- Synopsis -- Compliance with Ethics Guidelines -- Individual Contributions -- Financial Disclosure -- Conflict of Interest Statements -- Informed Consent for Identifying Information -- References -- Fructose-1,6-Bisphosphatase Deficiency: A Case of a Successful Pregnancy by Closely Monitoring Metabolic Control -- Abstract -- Introduction -- Case Report -- Discussion -- Synopsis -- Conflict of Interest -- Informed Consent -- Animal Rights -- Details of the Contributions of Individual Authors -- References -- Erratum to: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.