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Your search keyword '"Bedoyan, Jirair K."' showing total 20 results

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20 results on '"Bedoyan, Jirair K."'

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1. Consensus guidelines for management of hyperammonaemia in paediatric patients receiving continuous kidney replacement therapy.

2. Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency.

3. Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion.

4. The Value of Comprehensive Thyroid Function Testing and Family History for Early Diagnosis of MCT8 Deficiency.

5. Age-related effect of serotonin transporter genotype on amygdala and prefrontal cortex function in adolescence.

6. The impact of serotonin transporter (5-HTTLPR) genotype on the development of resting-state functional connectivity in children and adolescents: A preliminary report

7. Congenital diaphragmatic hernia: associated anomalies and antenatal diagnosis. Outcome-related variables at two Detroit hospitals.

8. First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog–Scott syndrome

9. Amino acid ratio combinations as biomarkers for discriminating patients with pyruvate dehydrogenase complex deficiency from other inborn errors of metabolism.

10. Urea Cycle Disorders in the US and Europe – Evidence-based Clinical Outcomes Derived from Two Decades of Experience with Prospective Registry Studies.

11. Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.

12. Pearson Syndrome: A Rare Cause of Failure to Thrive in Infants.

13. Enzymatic testing sensitivity, variability and practical diagnostic algorithm for pyruvate dehydrogenase complex (PDC) deficiency.

14. Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin.

15. The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors.

16. Novel SMC1A frameshift mutations in children with developmental delay and epilepsy.

17. Clinical and biochemical characterization of four patients with mutations in ECHS1.

18. Clinical and biochemical characterization of four patients with mutations in ECHS1

19. Leigh Syndrome in a Girl With a Novel DLD Mutation Causing E3 Deficiency

20. Clinical and biochemical characterization of four patients with mutations in ECHS1.

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