31 results on '"Wasserstein, Melissa"'
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2. Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States
3. ScreenPlus: A comprehensive, multi-disorder newborn screening program
4. Physician services and costs after disclosure of diagnostic sequencing results in the NYCKidSeq program
5. The NYCKidSeq randomized controlled trial: Impact of GUÍA digitally enhanced genetic results disclosure in diverse families
6. Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients
7. Hope versus reality: Parent expectations of genomic testing
8. Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging
9. 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
10. 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
11. Olipudase alfa enzyme replacement therapy reverses interstitial lung disease in adults with acid sphingomyelinase deficiency: Long-term pulmonary outcomes of the ASCEND trial
12. 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
13. Collaborative research efforts drive therapeutic advancements for free sialic acid storage disorder (FSASD)
14. P874: Parental perspectives and experiences on the implications of expanded and universal newborn screening
15. P500: Optimizing consent: An analysis of recruitment data for the first 11,000 consented ScreenPlus parents
16. Types A and B Niemann-Pick disease
17. Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 dose-escalation trial
18. P349: Plasma lyso-sphingomyelin, biomarker for acid sphingomyelinase deficiency: Correlations with baseline disease and response to olipudase alfa treatment in clinical trials
19. P318: Impact of genetic counseling using GUÍA on diverse families’ understanding of genomic results: Finding from the NYCKidSeq randomized controlled trial*
20. P245: GUÍA application: Effectiveness in enhancing communication of genomic results in diverse, multilingual populations*
21. Contributors
22. Case 11.2.2 - Newborn Screening Cases: Abnormal Newborn Metabolic Screening
23. Case 11.2.1 - Newborn Screening Cases: False Positive Newborn Screening
24. Prolonged postpartum proteinuria after early preeclampsia
25. Chapter 53 - Lysosomal Storage Diseases: Perspectives and Principles
26. GenomeDiver: a platform for phenotype-guided medical genomic diagnosis
27. 50 Years Ago in TheJournalofPediatrics: Phenylketonuria over the Years: A Story of Treatable Intellectual Disability
28. Ventricular assist device bridge to heart transplantation in a child with homocystinuria
29. Chapter 51 - Lysosomal Storage Diseases: Perspectives and Principles
30. Contributors
31. Contributors
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