251 results on '"Maranda, Bruno"'
Search Results
2. Safety and efficacy of inhaled IBIO123 for mild-to-moderate COVID-19: a randomised, double-blind, dose-ascending, placebo-controlled, phase 1/2 trial
3. Urine filter paper high-risk screening test for early detection of lysosphingolipidoses using tandem mass spectrometry
4. Analysis by tandem mass spectrometry of lyso-Gb and related analogues in dried blood spots: A convenient way to monitor patients affected with Fabry disease
5. Technological update of the Provincial Neonatal Urine Screening Program in Quebec
6. Metabolic Reprogramming of the Neovascular Niche Promotes Regenerative Angiogenesis in Proliferative Retinopathy
7. Analysis of Globotriaosylceramide (Gb3) in Liquid Urine: A Straightforward Assay Using Tandem Mass Spectrometry.
8. Metabolic Reprogramming of the Neovascular Niche Promotes Regenerative Angiogenesis in Proliferative Retinopathy
9. A case of hyperlysinemia identified by urine newborn screening
10. Early-onset emphysema in a large French-Canadian family: a genetic investigation
11. Safety and efficacy of inhaled IBIO123 for mild-to-moderate COVID-19: a randomised, double-blind, dose-ascending, placebo-controlled, phase 1/2 trial
12. The Québec NTBC Study
13. Analysis by tandem mass spectrometry of lyso-Gb3and related analogues in dried blood spots: A convenient way to monitor patients affected with Fabry disease
14. Discovery of novel MPS II neuronopathic biomarkers using untargeted metabolomic approaches
15. Clinical characteristics of patients from Quebec, Canada, with Morquio A syndrome: a longitudinal observational study
16. A case of hyperlysinemia identified by urine newborn screening.
17. Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences
18. Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in Canada
19. Clinical validity of phenotype-driven analysis software PhenoVar as a diagnostic aid for clinical geneticists in the interpretation of whole-exome sequencing data
20. Combined malonic and methylmalonic aciduria due to ACSF3 mutations: benign clinical course in an unselected cohort
21. Mass Spectrometry Analysis of Globotriaosylsphingosine and Its Analogues in Dried Blood Spots
22. A Randomized, Double-Blind, Dose-Ascending, Placebo-Controlled Phase 1-2 Trial of Inhaled IBIO123: A Monoclonal Antibodies Cocktail Treatment for Mild-To Moderate COVID-19 Illness
23. UPLC-MS/MS detection of disaccharides derived from glycosaminoglycans as biomarkers of mucopolysaccharidoses
24. Retinal lipid and glucose metabolism dictates angiogenesis through the lipid sensor Ffar1
25. An improved method for glycosaminoglycan analysis by LC–MS/MS of urine samples collected on filter paper
26. Lysosphingolipid Urine Screening Test using Mass Spectrometry for the Early Detection of Lysosomal Storage Disorders
27. Three new cases of terminal deletion of the long arm of chromosome 7 and literature review to correlate genotype and phenotype manifestations
28. Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Phenylketonuria
29. Genetically proven cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in a 3-year-old
30. A survey of APC mutations in Quebec
31. Neonatal Urine Screening Program in the Province of Quebec: Technological Upgrade from Thin Layer Chromatography to Tandem Mass Spectrometry
32. False positives in plasma ammonia measurement and their clinical impact in a pediatric population
33. Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia
34. Mutations in TMEM231 cause Joubert syndrome in French Canadians
35. Clinical validity of karyotyping for the diagnosis of chromosomal imbalance following array comparative genomic hybridisation
36. 11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity
37. LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency
38. Diurnal Variation of Urinary Fabry Disease Biomarkers during Enzyme Replacement Therapy Cycles
39. Mass spectrometry approach allowing correlations between podocyturia and glycosphingolipids in Fabry disease patients
40. Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi‐Bickel syndrome
41. HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French‐Canadian patients from Quebec
42. Evidence for Genetic Heterogeneity in d-2-Hydroxyglutaric Aciduria
43. Molecular and Clinical Genetics of Mitochondrial Diseases Due to POLG Mutations
44. Correction: Corrigendum: Retinal lipid and glucose metabolism dictates angiogenesis through the lipid sensor Ffar1
45. Tandem mass spectrometry analysis of urinary podocalyxin and podocin in the investigation of podocyturia in women with preeclampsia and Fabry disease patients
46. Hematopoietic stem cell transplant does not prevent neurological deterioration in infants with Farber disease: Case report and literature review
47. Newborn mass urine screening for Morquio syndrome type A patients using an innovative UPLC-MS/MS approach
48. Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort
49. Familial deletion 18p syndrome: case report
50. Additional file 1: of Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing
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