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  1. 181
    Parkinson’s Disease and Metal Storage Disorders: A Systematic Review
    by Edward Botsford, Jayan George, Ellen E. Buckley
    Published 2018-10-01
    Subjects: “...inborn error of metabolism...”
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    Article
  2. 182
    The digital epidemiology of phenylketonuria, aka folling’s disease: retrospective analysis and geographic mapping via google trends
    by Ahmed Al-Imam
    Published 2018-10-01
    Subjects: “...inborn errors of metabolism...”
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    Article
  3. 183
    Atypical MR lenticular signal change in infantile isovaleric acidemia
    Subjects: “...inborn error of metabolism...”
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    Article
  4. 184
    The rs2229611 (G6PC:c.*23 T>C) is associated with glycogen storage disease type Ia in Brazilian patients
    Subjects: “...Inborn error of metabolism...”
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    Article
  5. 185
    Successful intrauterine treatment of a patient with cobalamin C defect
    Subjects: “...Inborn error of metabolism...”
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    Article
  6. 186
    Medical-Nutritional Intervention in a Jordanian Child with Glycogen Storage Disease Type IIIA: Case Report
    by Al-Zeidaneen Safaa A.
    Published 2017-12-01
    Subjects: “...inborn error of metabolism...”
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    Article
  7. 187
    Medium-chain Acyl-CoA dehydrogenase deficiency: a characterization of the most common variant and current and future therapeutics
    by Barbera, Gabrielle
    Published 2018
    Subjects: “...Inborn error of metabolism...”
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  8. 188
    Inherited Metabolic Causes of Stroke in Children: Mechanisms, Types, and Management
    Subjects: “...inborn error of metabolism...”
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    Article
  9. 189
    Recherche et validation de biomarqueurs lipidiques du globule rouge par chromatographie en phase liquide couplée à la spectrométrie de masse. Application au diagnostic et au suivi thérapeutique de la maladie de Gaucher
    by Chipeaux, Caroline
    Published 2019
    Subjects: “...Inborn errors of metabolism...”
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  10. 190
    Long-chain polyunsaturated fatty acid concentration in patients with inborn errors of metabolism Concentración de ácidos grasos poliinsaturados de cadena larga en pacientes con errores innatos del metabolismo
    Subjects: “...Inborn errors of metabolism...”
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    Article
  11. 191
    Tamiz metabólico neonatal por espectrometría de masas en tándem: dos años de experiencia en Nuevo León, México Expand newborn screening using tandem mass spectrometry: two years' experience in Nuevo León, Mexico
    Subjects: “...inborn errors of metabolism...”
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    Article
  12. 192
    Metabolic Profiling in Human Fibroblasts Enables Subtype Clustering in Glycogen Storage Disease
    Subjects: “...inborn error of metabolism...”
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    Article
  13. 193
    A Case of Suspected Hyperphenylalaninemia at Newborn Screening by Tandem Mass Spectrometry during Total Parenteral Nutrition
    Subjects: “...inborn error of metabolism...”
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    Article
  14. 194
    Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app
    Subjects: “...Inborn error of metabolism...”
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    Article
  15. 195
    Newborn Screening for Primary Immune Deficiencies with a TREC/KREC/ACTB Triplex Assay—A Three-Year Pilot Study in Sweden
    Subjects: “...inborn errors of metabolism...”
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    Article
  16. 196
    Vitamin K Status in Adherent and Non-Adherent Patients with Phenylketonuria: A Cross-Sectional Study
    Subjects: “...inborn error of metabolism...”
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    Article
  17. 197
    Seeding of proteins into amyloid structures by metabolite assemblies may clarify certain unexplained epidemiological associations
    Subjects: “...inborn error of metabolism...”
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    Article
  18. 198
    Inherited selective cobalamin malabsorption in Komondor dogs associated with a CUBN splice site variant
    Subjects: “...Inborn error of metabolism...”
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    Article
  19. 199
    [PROVISIONAL] Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma
    Subjects: “...inborn error of metabolism...”
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    Article
  20. 200
    Molybdenum Cofactor Deficiency: Mega Cisterna Magna in Two Consecutive Pregnancies and Review of the Literature
    Subjects: “...inborn error of metabolism...”
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