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3. Families' healthcare experiences for children with inherited metabolic diseases: protocol for a mixed methods cohort study

4. Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey

9. Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey

16. Family-centred care interventions for children with chronic conditions: A scoping review.

17. Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.

18. Diagnostic yield of clinical exome sequencing in adulthood in medical genetics clinics.

19. Genomics in Cerebral Palsy phenotype across the lifespan: Comparison of diagnostic yield between children and adult population.

20. Family Experiences with Care for Children with Inherited Metabolic Diseases in Canada: A Cross-Sectional Survey.

21. Families' healthcare experiences for children with inherited metabolic diseases: protocol for a mixed methods cohort study.

22. Brain-lung-thyroid syndrome in a neonate with argininosuccinate lyase deficiency.

23. Outcomes of patients with cobalamin C deficiency: A single center experience.

24. Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network.

25. Pre-school neurocognitive and functional outcomes after liver transplant in children with early onset urea cycle disorders, maple syrup urine disease, and propionic acidemia: An inception cohort matched-comparison study.

26. Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians.

27. Kidney disease and organ transplantation in methylmalonic acidaemia.

28. ATP6AP2 variant impairs CNS development and neuronal survival to cause fulminant neurodegeneration.

29. Genetic landscape of pediatric movement disorders and management implications.

30. Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

31. Glutaric Aciduria Type 3: Three Unrelated Canadian Cases, with Different Routes of Ascertainment.

32. Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II.

33. Experiences of caregivers of children with inherited metabolic diseases: a qualitative study.

34. Progressive Cerebellar Atrophy and a Novel Homozygous Pathogenic DNAJC19 Variant as a Cause of Dilated Cardiomyopathy Ataxia Syndrome.

35. Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine.

36. Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups.

37. Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

38. Long-term developmental progression in infants and young children taking sapropterin for phenylketonuria: a two-year analysis of safety and efficacy.

39. Scoping review of patient- and family-oriented outcomes and measures for chronic pediatric disease.

40. Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study.

41. Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in Canada.

42. The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada.

43. Danon Disease Due to a Novel LAMP2 Microduplication.

45. XY sex reversal, pontocerebellar hypoplasia and intellectual disability: confirmation of a new syndrome.

46. Achieving the "triple aim" for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework.

47. Expanding the Spectrum of Methylmalonic Acid-Induced Pallidal Stroke: First Reported Case of Metabolic Globus Pallidus Stroke in Transcobalamin II Deficiency.

48. Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations.

49. Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported?

50. Identification of a neonate with hepatorenal tyrosinemia by combined routine newborn screening for succinylacetone, acylcarnitines and amino acids.

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