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  1. 101
    A Proteomics-Based Analysis Reveals Predictive Biological Patterns in Fabry Disease
    Subjects: “...Inborn errors of metabolism...”
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  2. 102
    Untargeted Metabolomics for Autism Spectrum Disorders: Current Status and Future Directions
    by Kevin E. Glinton, Sarah H. Elsea
    Published 2019-09-01
    Subjects: “...inborn errors of metabolism...”
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  3. 103
    Application of Next-Generation Sequencing Following Tandem Mass Spectrometry to Expand Newborn Screening for Inborn Errors of Metabolism: A Multicenter Study
    Subjects: “...inborn errors of metabolism...”
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  4. 104
    Glycogen storage disease type I: clinical and laboratory profile
    Subjects: “...Inborn errors of metabolism...”
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  5. 105
    The treatable intellectual disability APP www.treatable-id.org: A digital tool to enhance diagnosis & care for rare diseases
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  6. 106
    Screening for inborn errors of metabolism in high-risk children: a 3-year pilot study in Zhejiang Province, China
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  7. 107
    Critical Newborn Screens in Double Heterozygotes of Inborn Errors of Metabolism—A Clinical Report and Recommendations
    Subjects: “...inborn errors of metabolism...”
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  8. 108
    Parsing Fabry Disease Metabolic Plasticity Using Metabolomics
    Subjects: “...inborn errors of metabolism...”
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  9. 109
    Histone deacetylase inhibitors correct the cholesterol storage defect in most Niemann-Pick C1 mutant cells
    Subjects: “...inborn errors of metabolism...”
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  10. 110
    Analytical Evaluation of the Ideal Strategy for High-Throughput Flow Injection Analysis by Tandem Mass Spectrometry in Routine Newborn Screening
    Subjects: “...inborn errors of metabolism...”
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  11. 111
    Gene delivery using AAV8 in vivo for disease stabilization in a bimodal gene therapy approach for the treatment of ADA-deficient SCID
    Subjects: “...inborn errors of metabolism...”
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  12. 112
    Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese Population
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  13. 113
    Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity
    Subjects: “...Inborn errors of metabolism...”
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  14. 114
    Targeted Metabolomic Profiling of Total Fatty Acids in Human Plasma by Liquid Chromatography-Tandem Mass Spectrometry
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  15. 115
    Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network
    Subjects: “...Inborn errors of metabolism....”
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  16. 116
    Pre‐school neurocognitive and functional outcomes after liver transplant in children with early onset urea cycle disorders, maple syrup urine disease, and propionic acidemia: An inception cohort matched‐comparison study
    Subjects: “...inborn errors of metabolism...”
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  17. 117
    Quantitative amino acid analysis by liquid chromatography‐tandem mass spectrometry using low cost derivatization and an automated liquid handler
    Subjects: “...inborn errors of metabolism...”
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  18. 118
    Diagnosis and therapeutic monitoring of inborn errors of metabolism in 100,077 newborns from Jining city in China
    Subjects: “...Inborn errors of metabolism (IEM)...”
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  19. 119
    Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population
    Subjects: “...inborn errors of metabolism...”
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  20. 120
    Endocrine manifestations related to inherited metabolic diseases in adults
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