11 results on '"Bedoyan, Jirair K."'
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2. Kidney Replacement Therapy and Mortality in Children With Inborn Errors of Metabolism: A Meta-analysis
3. Amino acid ratio combinations as biomarkers for discriminating patients with pyruvate dehydrogenase complex deficiency from other inborn errors of metabolism
4. Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin
5. Amino acid ratio combinations as biomarkers for discriminating patients with pyruvate dehydrogenase complex deficiency from other inborn errors of metabolism.
6. Kidney Replacement Therapy and Mortality in Children With Inborn Errors of Metabolism: A Meta-analysis
7. Relationship between longitudinal changes in neuropsychological outcome and disease biomarkers in urea cycle disorders.
8. Simulations of Pathogenic E1α Variants: Allostery and Impact on Pyruvate Dehydrogenase Complex-E1 Structure and Function
9. Novel multilocus imprinting disturbances in a child with expressive language delay and intellectual disability
10. Solvent accessibility of E1α and E1β residues with known missense mutations causing pyruvate dehydrogenase complex ( PDC ) deficiency: Impact on PDC‐E1 structure and function
11. Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database.
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