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Showing 221 - 232 results of 232 for search '"inborn errors of metabolism"', query time: 3.06s Refine Results
  1. 221
    Physiopathologie des maladies métaboliques héréditaires des acyls-Coenzyme A révélée par l’étude d’un modèle animal déficient en 3-hydroxy-3-méthylglutaryl-Coenzyme A lyase
    by Gauthier, Nicolas
    Published 2013
    Subjects: “...inborn errors of metabolism...”
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  2. 222
    Physiopathologie des maladies métaboliques héréditaires des acyls-Coenzyme A révélée par l’étude d’un modèle animal déficient en 3-hydroxy-3-méthylglutaryl-Coenzyme A lyase
    by Gauthier, Nicolas
    Published 2013
    Subjects: “...inborn errors of metabolism...”
    Get full text
  3. 223
    Mutations in ARSB in MPS VI patients in India
    Subjects: “...Inborn error of metabolism (IEM)...”
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    Article
  4. 224
    Validation of amplicon-based next generation sequencing panel for second-tier test in newborn screening for inborn errors of metabolism
    Subjects: “...inborn error of metabolism...”
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    Article
  5. 225
    Characteristics Associated with Neonatal Carnitine Levels: A Systematic Review & Clinical Database Analysis
    by Sutherland, Sarah C.
    Published 2013
    Subjects: “...inborn errors of metabolism...”
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  6. 226
    Characteristics Associated with Neonatal Carnitine Levels: A Systematic Review & Clinical Database Analysis
    by Sutherland, Sarah C.
    Published 2013
    Subjects: “...inborn errors of metabolism...”
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  7. 227
    Characteristics Associated with Neonatal Carnitine Levels: A Systematic Review & Clinical Database Analysis
    by Sutherland, Sarah C.
    Published 2013
    Subjects: “...inborn errors of metabolism...”
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    Get full text
  8. 228
    O tratamento da doença de Gaucher no Sistema Único de Saúde: o caso do Rio de Janeiro
    Subjects: “...Inborn Error of Metabolism...”
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  9. 229
    Diagnosis of Neurogenetic Disorders: Contribution of Next Generation Sequencing and Deep Phenotyping
    Published 2019
    Subjects: “...inborn error of metabolism...”
    Open Access: DOAB: description of the publication
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    eBook
  10. 230
    Genetic Testing for Rare Diseases
    Published 2022
    Subjects: “...inborn errors of metabolism...”
    Open Access: DOAB: description of the publication
    Open Access: DOAB, download the publication
    eBook
  11. 231
    Segmental maternal uniparental disomy of chromosome 7q in a patient with congenital chloride diarrhea
    Subjects: “...inborn error of metabolism...”
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    Article
  12. 232
    Molecular Basis of Inherited Diseases in Companion Animals
    Published 2021
    Subjects: “...inborn error of metabolism...”
    Open Access: DOAB: description of the publication
    Open Access: DOAB, download the publication
    eBook
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