285 results on '"Wasserstein A"'
Search Results
2. ScreenPlus: A comprehensive, multi-disorder newborn screening program
3. Clinical variants paired with phenotype: A rich resource for brain gene curation
4. Impact of homozygous p.Arg610del genotype on disease burden and treatment response in adults with acid sphingomyelinase deficiency in the ASCEND trial of olipudase alfa
5. A parent's journey to consent: An analysis of the number and mode of attempts used to gain consent from the first 11,000 ScreenPlus participants
6. Olipudase alfa enzyme replacement therapy reverses interstitial lung disease in adults with acid sphingomyelinase deficiency: Long-term pulmonary outcomes of the ASCEND trial
7. Improvements in liver and lipid outcomes continue in children and adults with chronic acid sphingomyelinase deficiency treated for 2 to 6.5 years with olipudase alfa in long-term clinical trials
8. Collaborative research efforts drive therapeutic advancements for free sialic acid storage disorder (FSASD)
9. The NYCKidSeq randomized controlled trial: Impact of GUÍA digitally enhanced genetic results disclosure in diverse families
10. Physician services and costs after disclosure of diagnostic sequencing results in the NYCKidSeq program
11. A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results
12. Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients
13. Newborn screening for metachromatic leukodystrophy (MLD): An overview of ongoing and future studies
14. A concerted action to explore therapies for free sialic acid storage disease
15. Plasma lyso-sphingomyelin as a biomarker for acid sphingomyelinase deficiency: Correlations with baseline disease and response to olipudase alfa treatment in clinical trials
16. P245: GUÍA application: Effectiveness in enhancing communication of genomic results in diverse, multilingual populations*
17. P349: Plasma lyso-sphingomyelin, biomarker for acid sphingomyelinase deficiency: Correlations with baseline disease and response to olipudase alfa treatment in clinical trials
18. P318: Impact of genetic counseling using GUÍA on diverse families’ understanding of genomic results: Finding from the NYCKidSeq randomized controlled trial*
19. GenomeDiver: a platform for phenotype-guided medical genomic diagnosis
20. Hope versus reality: Parent expectations of genomic testing
21. Biomechanical Comparison of 3 Medial Patellofemoral Complex Reconstruction Techniques Shows Medial Overconstraint but no Significant Difference in Patella Lateralization and Contact Pressure
22. The missing organ in a new orthodontically induced inflammatory root resorption hypothesis or a picture is worth a thousand words
23. GUÍA: a digital platform to facilitate result disclosure in genetic counseling
24. A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results
25. (PO-152) Kratom Tramadol Toxicity With Seizure, Hypokalemia, Marked Q-T Prolongation, and Cognitive Impairment: A Case Report
26. C-16 | Balloon Pulmonary Angioplasty: Regions of Lungs Targeted and Effect on Hemodynamics
27. A concerted action to explore therapies for free sialic acid storage disease
28. Newborn screening for metachromatic leukodystrophy (MLD): An overview of ongoing and future studies
29. Plasma lyso-sphingomyelin as a biomarker for acid sphingomyelinase deficiency: Correlations with baseline disease and response to olipudase alfa treatment in clinical trials
30. P318: Impact of genetic counseling using GUÍA on diverse families’ understanding of genomic results: Finding from the NYCKidSeq randomized controlled trial*
31. P245: GUÍA application: Effectiveness in enhancing communication of genomic results in diverse, multilingual populations*
32. P349: Plasma lyso-sphingomyelin, biomarker for acid sphingomyelinase deficiency: Correlations with baseline disease and response to olipudase alfa treatment in clinical trials
33. eP067: Diagnostic yield of genome sequencing versus targeted gene panel testing in diverse pediatric patients in the NYCKidSeq study
34. OP042: A matter of opinion: An exploratory study of parental attitudes towards newborn screening for conditions of varying onset and treatability
35. eP280: Continued improvement in adults with acid sphingomyelinase deficiency after 2 years of olipudase alfa in the ASCEND placebo-controlled trial
36. eP236: TeleKidSeq: Incorporating telehealth into clinical care of children from diverse backgrounds undergoing clinical genome sequencing
37. eP424: Newborn screening is associated with decreased parental depression and stress compared to clinical diagnosis: Results from a cross-sectional survey
38. OP056: ScreenPlus pilot newborn screening: recruitment and engagement findings from the first 300 consented infants
39. eP492: The ScreenPlus model for collective funding of pilot newborn screening
40. Screening, patient identification, evaluation, and treatment in patients with Gaucher disease: Results from a Delphi consensus
41. Parental depression and stress associated with newborn screening for complex disorders
42. A concerted action to explore therapies for free sialic acid storage disease (FSASD)
43. Overlapping and divergent hepatic and lipoprotein phenotypes in untreated adults with acid sphingomyelinase deficiency versus untreated adults with Gaucher disease from two pivotal clinical trials
44. Screenplus: A model for collective funding of pilot newborn screening
45. It's a matter of opinion: An exploratory study of parent attitudes towards newborn screening for later-onset and untreatable disorders
46. Two-year results of the ASCEND trial of olipudase alfa adults with chronic acid sphingomyelinase deficiency show parallel improvements in former placebo patients and further improvement in continuing olipudase alfa patients
47. Sustained and continued improvements in pulmonary function, hepatosplenomegaly, dyslipidemia, and disease biomarkers in 5 adults with chronic acid sphingomyelinase deficiency after 6.5 years of olipudase alfa enzyme replacement therapy
48. Continued improvement in pulmonary outcomes in 3 clinical trials of olipudase alfa in children and adults with chronic acid sphingomyelinase deficiency treated for 2 to 6.5 years
49. (PO-152) Kratom Tramadol Toxicity With Seizure, Hypokalemia, Marked Q-T Prolongation, and Cognitive Impairment: A Case Report
50. eP280: Continued improvement in adults with acid sphingomyelinase deficiency after 2 years of olipudase alfa in the ASCEND placebo-controlled trial
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.