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Your search keyword '"Bedoyan, Jirair K."' showing total 39 results

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

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

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

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

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

6. Simulations of Pathogenic E1α Variants: Allostery and Impact on Pyruvate Dehydrogenase Complex-E1 Structure and Function.

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

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

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

10. Novel presentations associated with a PDHA1 variant - Alternating hemiplegia in Hemizygote proband and Guillain Barre Syndrome in Heterozygote mother.

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

12. 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.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

29. Novel DICER1 mutation as cause of multinodular goiter in children.

30. Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency.

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

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

33. A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia.

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

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

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

37. Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement.

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

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

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