146 results on '"Bedoyan, Jirair K."'
Search Results
2. Kidney Replacement Therapy and Mortality in Children With Inborn Errors of Metabolism: A Meta-analysis
3. Consensus guidelines for management of hyperammonaemia in paediatric patients receiving continuous kidney replacement therapy
4. Amino acid ratio combinations as biomarkers for discriminating patients with pyruvate dehydrogenase complex deficiency from other inborn errors of metabolism.
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. Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin
8. Relationship between longitudinal changes in neuropsychological outcome and disease biomarkers in urea cycle disorders.
9. Mitochondrial diseases in North America: An analysis of the NAMDC Registry
10. Novel SMC1A frameshift mutations in children with developmental delay and epilepsy
11. Simulations of Pathogenic E1α Variants: Allostery and Impact on Pyruvate Dehydrogenase Complex-E1 Structure and Function
12. Novel multilocus imprinting disturbances in a child with expressive language delay and intellectual disability
13. The impact of serotonin transporter (5-HTTLPR) genotype on the development of resting-state functional connectivity in children and adolescents: A preliminary report
14. Solvent accessibility of E1α and E1β residues with known missense mutations causing pyruvate dehydrogenase complex ( PDC ) deficiency: Impact on PDC‐E1 structure and function
15. The Value of Comprehensive Thyroid Function Testing and Family History for Early Diagnosis of MCT8 Deficiency
16. Novel presentations associated with a PDHA1 variant – Alternating hemiplegia in Hemizygote proband and Guillain Barre Syndrome in Heterozygote mother
17. Age-related effect of serotonin transporter genotype on amygdala and prefrontal cortex function in adolescence
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. Novel DICER1 mutation as cause of multinodular goiter in children
21. From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria
22. Congenital diaphragmatic hernia: associated anomalies and antenatal diagnosis: Outcome-related variables at two Detroit hospitals
23. A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia
24. 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
25. The E273del variant of uncertain significance of the ornithine transcarbamylase gene - a case for reclassification
26. Life-threatening presentations of propionic acidemia due to the Amish PCCB founder variant
27. Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement
28. Early prediction of phenotypic severity in Citrullinemia Type 1
29. Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders
30. Urea Cycle Disorders in the US and Europe – Evidence-based Clinical Outcomes Derived from Two Decades of Experience with Prospective Registry Studies
31. A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency
32. Pearson Syndrome: A Rare Cause of Failure to Thrive in Infants
33. 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.
34. Enzymatic testing sensitivity, variability and practical diagnostic algorithm for pyruvate dehydrogenase complex (PDC) deficiency
35. Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency
36. Succinyl-CoA synthetase ( SUCLA2 ) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion
37. Urea Cycle Disorders in the US and Europe – Evidence-based Clinical Outcomes Derived from Two Decades of Experience with Prospective Registry Studies.
38. Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.
39. A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency.
40. The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors
41. Clinical and biochemical characterization of four patients with mutations in ECHS1
42. The Value of Comprehensive Thyroid Function Testing and Family History for Early Diagnosis of MCT8 Deficiency
43. Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency
44. First case of deletion of the faciogenital dysplasia 1 ( FGD1) gene in a patient with Aarskog–Scott syndrome
45. NovelDICER1mutation as cause of multinodular goiter in children
46. Leigh Syndrome in a Girl With a Novel DLD Mutation Causing E3 Deficiency
47. The impact of serotonin transporter genotype on default network connectivity in children and adolescents with autism spectrum disorders
48. The Value of Comprehensive Thyroid Function Testing and Family History for Early Diagnosis of MCT8 Deficiency.
49. Age‐related effect of serotonin transporter genotype on amygdala and prefrontal cortex function in adolescence
50. A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia
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