Note: Intro -- Contents -- Arginine Functionally Improves Clinically Relevant Human Galactose-1-Phosphate Uridylyltransferase (GALT) Variants Expressed i... -- Abstract -- Introduction -- Materials and Methods -- Cloning and Mutagenesis -- Cell Cultures and Growth Media -- Results and Discussion -- Effect of Carbon Sources upon the Growth of Non-transformed and Wild-Type hGALT-Transformed E. coli DeltagalT -- Galactose Sensitivity of Bacteria Expressing Different hGALT Variants -- Arginine Rescue of the hGALT Variants -- Conclusion -- Synopsis -- Compliance with Ethics Guidelines -- Conflict of Interest -- Informed Consent -- Animal Rights -- Contributions -- References -- Effect and Tolerability of Agalsidase Alfa in Patients with Fabry Disease Who Were Treatment Naïve or Formerly Treated with Ag... -- Abstract -- Introduction -- Patients and Methods -- Treatment Protocol Design and Data Collection -- Clinical and Pharmacodynamic Parameters -- Data and Statistical Analyses -- Results -- Safety and Tolerability -- Immunogenicity and Other Safety Parameters -- Renal Function and Cardiac Structure/Function -- Plasma and Urine Biomarkers -- Discussion -- Synopsis -- Compliance with Ethics Guidelines -- Conflicts of Interest -- Patient Consent Statement -- Details of the Contributions of Individual Authors -- References -- Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3beta,5α,6beta-Triol and Further Insight into t... -- Abstract -- Introduction -- Materials and Methods -- LC-MS/MS -- GC/MS -- Mutation Analysis -- Filipin Staining -- Chitotriosidase Activity -- Results -- Case Reports -- Patient 1 -- Patient 2 -- Patient 3 -- Discussion -- Compliance with Ethics Guidelines -- Conflict of Interest -- Informed Consent -- Details of the Contributions of Individual Authors -- References. , The Modulatory Effects of the Polymorphisms in GLA 5-Untranslated Region Upon Gene Expression Are Cell-Type Specific -- Abstract -- Introduction -- Materials and Methods -- Synopsis of the Laboratory Protocol -- Statistical Analyses -- Results -- Discussion -- Synopsis -- Compliance with Ethics Guidelines -- Conflict of Interest Declaration -- References -- The Kuvan Adult Maternal Paediatric European Registry (KAMPER) Multinational Observational Study: Baseline and 1-Year Data in ... -- Abstract -- Introduction -- Methods -- Study Design -- Study Population -- Study Variables -- Assessments -- Study Size -- Minimizing Bias -- Statistical Analyses -- Results -- Patients -- BH4 Responsiveness -- Safety -- Sapropterin Treatment -- Blood Phenylalanine Concentrations at Baseline, 6 Months and 12 Months -- Natural Protein and Actual Phenylalanine Intake at Baseline, 6 Months and 12 Months -- Growth -- Discussion -- Synopsis -- Compliance with Ethics Guidelines -- Conflicts of Interest -- Informed Consent -- Contributions of Individual Authors -- References -- Postmortem Findings and Clinical Correlates in Individuals with Infantile-Onset Pompe Disease -- Abstract -- Introduction -- Materials and Methods -- Results -- Patient 1 -- Postmortem Examination -- Smooth Muscle -- Cardiac Muscle -- Nervous System -- Eyes -- Other Findings -- Patient 2 -- Postmortem Examination -- Smooth Muscle -- Nervous System -- Eyes -- Patient 3 -- Postmortem Examination -- Smooth Muscle -- Cardiac Muscle -- Nervous System -- Other Findings -- Discussion -- Conclusion -- Synopsis -- Compliance with Ethics Guidelines -- Conflict of Interest -- Informed Consent -- Contributions by Individual Authors -- References -- Clinical Severity of PGK1 Deficiency Due To a Novel p.E120K Substitution Is Exacerbated by Co-inheritance of a Subclinical Tra... -- Abstract -- Introduction. , Materials and Methods -- Samples, Cytogenetic Analysis, and Lymphoblastoid Cell Lines (LCLs) -- DNA extraction, flow sorting of derivative (der) chromosomes, array painting, amplification of the junction fragments, and SNP... -- Whole-Exome Sequencing (WES) -- RNA Extraction and Expression Studies -- Construction of the Expression Vector Coding for PGK1 p.E120K Variant -- Expression, Purification, and Characterization of the PGK1-E120K Variant -- SDS-PAGE and Immunodetection -- Results -- Clinical Report -- Cytogenetic Analysis -- Breakpoints and Candidate Genes -- Exclusion of Genomic Imbalance and Identification of the Additional Genetic Defect -- Functional Characterization of the PGK1 p.E120K Variant -- Gene Expression Studies -- SDS-PAGE Western Blot Analysis -- Discussion -- Synopsis -- Compliance with Ethics Guidelines -- Conflict of Interest -- Informed Consent -- Details of the Contributions of Individual Authors -- References -- Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase Deficiency -- Abstract -- Introduction -- Case Report -- Discussion and Conclusions -- Synopsis -- Conflict of Interest -- Compliance with Ethics Guidelines -- Author Contribution -- References -- Cobalamin C Disease Missed by Newborn Screening in a Patient with Low Carnitine Level -- Abstract -- Introduction -- Clinical Report -- Discussion -- Synopsis -- Compliance with Ethics Guidelines -- Conflict of Interest -- Contributions -- References -- Adverse Effects of Genistein in a Mucopolysaccharidosis Type I Mouse Model -- Abstract -- Introduction -- Materials and Methods -- Animals -- Tissue Processing -- GAG Analysis -- Genistein Measurement -- Morphology of Testes -- Statistical Analysis -- Results -- Genistein Decreases GAG Levels in the Liver but Not in the Bone or Plasma. , Genistein Was Present in the Plasma but Undetectable in the Bone -- Genistein Causes Decreased Skeletal Growth and Scrotal Hernia/Hydrocele in MPS I Mice -- Discussion -- Take-Home Message -- Compliance with Ethics Guidelines -- Conflicts of Interest -- Informed Consent -- Animal Rights -- Contributions of the Individual Authors -- References -- Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High... -- Abstract -- Introduction -- Case Report -- Discussion -- Take-Home Message -- Compliance with Ethics Guidelines -- Informed Consent -- Author Contributions -- References -- Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel Phenotypes -- Abstract -- Introduction -- Subjects and Methods -- Patients and Controls -- DNA Extraction from Muscle Biopsy Samples and Fibroblasts -- Real-Time Quantitative PCR of Muscle DNA Samples -- Detection of Mitochondrial DNA Deletions in Muscle DNA Samples -- Molecular Genetic Studies on Patients with Mitochondrial DNA Depletion or Deletions -- Results -- Characteristics of Patient and Control Cohorts -- Molecular Studies and Clinical Features of the Patients -- Discussion -- Synopsis -- Compliance with Ethics Guidelines -- Conflict of Interest -- Informed Consent -- Authors´ Contributions -- References -- Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn S... -- Abstract -- Introduction -- Methods -- Patients -- Genotype -- Biochemical Parameters -- Clinical Parameters -- Statistical Analysis -- Results -- Genotypes -- Biochemical Parameters -- Time of Sampling -- Clinical Outcome -- Discussion -- Biochemical Phenotype -- Time of Sampling -- Clinical Phenotype -- Conclusion -- Take-Home Message. , Compliance with Ethics Guidelines -- Conflict of Interest -- Authors´ Disclosures -- Conflict of Interest -- Informed Consent -- Authors´ Contributions -- Funding -- References -- Rhabdomyolysis-Associated Mutations in Human LPIN1 Lead to Loss of Phosphatidic Acid Phosphohydrolase Activity -- Abstract -- Introduction -- Materials and Methods -- Generation and Overexpression of Mutant Alleles -- Immunohistochemistry/Fluorescent Staining -- Protein and RNA Analysis -- Protein Half-Life -- Transcriptional Regulation -- PAP Activity -- Kinetic Analysis -- Statistical analysis -- Results -- Patient with Novel c.1904T> -- C (p.Leu635Pro) Mutation -- LPIN1 Exon Deletion Impairs Expression of the Lipin 1 Protein -- Single Amino Acid Substitutions in Lipin 1 -- Analysis of the Subcellular Localization and Transcriptional Regulatory Function of Lipin 1 Mutant Proteins -- PAP Activity of Lipin 1 Mutant Proteins -- Discussion -- One Sentence -- Compliance with Ethics Guidelines -- Conflict of Interest -- Informed Consent -- Author Contributions -- References -- Dup-24bp in the CHIT1 Gene in Six Mexican Amerindian Populations -- Abstract -- Introduction -- Material and Methods -- Statistical Analysis -- Results -- Discussion -- Compliance with Ethics Guidelines -- Conflicts of Interest -- Originality -- Contribution of the Authors -- Informed Consent -- References.