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Your search keyword '"Bedoyan, Jirair K."' showing total 47 results

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

4. Relationship between longitudinal changes in neuropsychological outcome and disease biomarkers in urea cycle disorders.

5. Mitochondrial diseases in North America: An analysis of the NAMDC Registry

12. Novel multilocus imprinting disturbances in a child with expressive language delay and intellectual disability.

13. Solvent accessibility of E1α and E1β residues with known missense mutations causing pyruvate dehydrogenase complex (PDC) deficiency: Impact on PDC‐E1 structure and function.

18. Enantiomer‐specific pharmacokinetics of D,L‐3‐hydroxybutyrate: Implications for the treatment of multiple acyl‐CoA dehydrogenase deficiency.

19. A Novel Homozygous Missense Mutation in the YARS Gene: Expanding the Phenotype of YARS Multisystem Disease.

20. Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects.

21. From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria.

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

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

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

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

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

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

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

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

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

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

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

35. Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database.

36. A novel GK Ala469Val variant resulting in glycerol kinase deficiency with concurrent hepatoblastoma: A case report.

38. Enantiomer-specific pharmacokinetics of D,L-3-hydroxybutyrate: Implications for the treatment of multiple acyl-CoA dehydrogenase deficiency.

39. Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects.

41. Life-threatening presentations of propionic acidemia due to the Amish PCCB founder variant.

42. A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene ( PDP1 ) causing pyruvate dehydrogenase complex deficiency.

43. Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency.

44. The impact of serotonin transporter genotype on default network connectivity in children and adolescents with autism spectrum disorders.

45. Microarray oligonucleotide probe designer (MOPeD): A web service.

46. Duplication 16p11.2 in a child with infantile seizure disorder.

47. Transmission of ring chromosome 13 from a mother to daughter with both having a 46,XX, r(13)(p13q34) karyotype.

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