975 results on '"Levy, Harvey"'
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2. Initial results from the PHEFREE longitudinal natural history study: Cross-sectional observations in a cohort of individuals with phenylalanine hydroxylase (PAH) deficiency
3. The treatment of biochemical genetic diseases: From substrate reduction to nucleic acid therapies
4. Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project
5. General Dentistry for Children with Cerebral Palsy
6. Perspectives and Insights Into Phenylketonuria: Provider Narratives About the Early Years Following Newborn Screening.
7. The Genetic Landscape and Epidemiology of Phenylketonuria
8. 5-year retrospective analysis of patients with phenylketonuria (PKU) and hyperphenylalaninemia treated at two specialized clinics
9. Pancreatic involvement in patients with inborn errors of metabolism
10. Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study
11. Revising the Psychiatric Phenotype of Homocystinuria
12. Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria
13. The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency
14. Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project
15. Untargeted metabolomics identifies unique though benign biochemical changes in patients with pathogenic variants in UROC1
16. Past as Prologue: Predicting Potential Psychosocial–Ethical Burdens of Positive Newborn Screens as Conditions Propagate
17. Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project
18. Phenylketonuria
19. Contributors
20. Prevalence of comorbid conditions among adult patients diagnosed with phenylketonuria
21. Phenylalanine ammonia lyase (PAL): From discovery to enzyme substitution therapy for phenylketonuria
22. Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM)
23. Metabolomic Markers of Essential Fatty Acids, Carnitine, and Cholesterol Metabolism in Adults and Adolescents with Phenylketonuria
24. Metabolomic changes demonstrate reduced bioavailability of tyrosine and altered metabolism of tryptophan via the kynurenine pathway with ingestion of medical foods in phenylketonuria
25. Krabbe Disease: Severe Neonatal Presentation With a Family History of Multiple Sclerosis
26. Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman
27. P012: Pegtibatinase, an investigational enzyme replacement therapy for the treatment of classical homocystinuria: Latest findings from the COMPOSE phase 1/2 trial
28. Glycomacropeptide for nutritional management of phenylketonuria: a randomized, controlled, crossover trial
29. Tools and Equipment for Managing Special Care Patients Anywhere
30. In memoriam: Charles Robert Scriver, CM, CC, GOQ, FRS, FRSC (1930–2023)
31. Is More Effective Newborn Screening for Homocystinuria on the Horizon?
32. Long-term outcome of expanded newborn screening at Boston children’s hospital: benefits and challenges in defining true disease
33. Adherence to tetrahydrobiopterin therapy in patients with phenylketonuria
34. O06: Insights from the first genetic evaluation of a longitudinal natural history study in classical homocystinuria (HCU)*
35. The hypergonadotropic hypogonadism conundrum of classic galactosemia
36. Charles Scriver: Epitome of the physician scientist
37. General Dentistry for Children with Cerebral Palsy
38. Contributors
39. Newborn Screening
40. Acute Illness Protocol for Urea Cycle Disorders
41. Genomics in Newborn Screening
42. Phenylketonuria: Old Disease, New Approach to Treatment
43. Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman.
44. The BabySeq project: implementing genomic sequencing in newborns
45. The Complexity of Newborn Screening Follow-Up in Phenylketonuria
46. Acute Illness Protocol for Maple Syrup Urine Disease
47. The Clinical Aspects of Newborn Screening: Importance of Newborn Screening Follow-Up
48. Expansion and Implications of Newborn Screening
49. PROBLEMS IN PRENATAL COUNSELING FOR PREGNANCIES AFFECTED WITH BENIGN HYPERPHENYLALANINEMIA
50. PEGTIBATINASE, AN INVESTIGATIONAL ENZYME REPLACEMENT THERAPY FOR THE TREATMENT OF CLASSICAL HOMOCYSTINURIA: INITIAL RESULTS FROM THE PHASE 1/2 COMPOSE STUDY
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