880 results on '"Levy, Harvey"'
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2. The treatment of biochemical genetic diseases: From substrate reduction to nucleic acid therapies
3. Past as Prologue: Predicting Potential Psychosocial–Ethical Burdens of Positive Newborn Screens as Conditions Propagate
4. General Dentistry for Children with Cerebral Palsy
5. Pancreatic involvement in patients with inborn errors of metabolism
6. Phenylketonuria
7. Contributors
8. Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria
9. Revising the Psychiatric Phenotype of Homocystinuria
10. Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman
11. In memoriam: Charles Robert Scriver, CM, CC, GOQ, FRS, FRSC (1930–2023)
12. P012: Pegtibatinase, an investigational enzyme replacement therapy for the treatment of classical homocystinuria: Latest findings from the COMPOSE phase 1/2 trial
13. Krabbe Disease: Severe Neonatal Presentation With a Family History of Multiple Sclerosis
14. Is More Effective Newborn Screening for Homocystinuria on the Horizon?
15. General Dentistry for Children with Cerebral Palsy
16. Contributors
17. Newborn Screening
18. Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman.
19. O06: Insights from the first genetic evaluation of a longitudinal natural history study in classical homocystinuria (HCU)*
20. The hypergonadotropic hypogonadism conundrum of classic galactosemia
21. Charles Scriver: Epitome of the physician scientist
22. Long-term outcome of expanded newborn screening at Boston children’s hospital: benefits and challenges in defining true disease
23. The Complexity of Newborn Screening Follow-Up in Phenylketonuria
24. Acute Illness Protocol for Urea Cycle Disorders
25. Acute Illness Protocol for Maple Syrup Urine Disease
26. Phenylketonuria: Old Disease, New Approach to Treatment
27. The BabySeq project: implementing genomic sequencing in newborns
28. The Clinical Aspects of Newborn Screening: Importance of Newborn Screening Follow-Up
29. Acute Illness Protocol for Organic Acidemias: Methylmalonic Acidemia and Propionic Acidemia
30. The hypergonadotropic hypogonadism conundrum of classic galactosemia.
31. Expansion and Implications of Newborn Screening
32. PROBLEMS IN PRENATAL COUNSELING FOR PREGNANCIES AFFECTED WITH BENIGN HYPERPHENYLALANINEMIA
33. PEGTIBATINASE, AN INVESTIGATIONAL ENZYME REPLACEMENT THERAPY FOR THE TREATMENT OF CLASSICAL HOMOCYSTINURIA: INITIAL RESULTS FROM THE PHASE 1/2 COMPOSE STUDY
34. eP008: Cystathionine beta synthase deficiency patients are being missed by newborn screening
35. Phenylketonuria
36. Early Development of Newborn Screening for HCU and Current Challenges
37. Management of a Woman With Maple Syrup Urine Disease During Pregnancy, Delivery, and Lactation
38. Cord-Blood Tyrosine Levels in the Full-Term Phenylketonuric Fetus and the ``Justification Hypothesis''
39. Purified Muscle Proteins and the Walking Rate of Ants
40. Diagnosis of Classic Homocystinuria in Two Boys Presenting with Acute Cerebral Venous Thrombosis and Neurologic Dysfunction after Normal Newborn Screening
41. Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project
42. Barbara Maria Cabalska, Professor Emeritus at the Institute of Mother and Child, Warsaw, Poland (born: Warsaw, Poland, October 19, 1927; MD Warsaw Medical Academy; deceased: Warsaw, Poland, February 5, 2020)
43. The adult galactosemic phenotype
44. Genomics in Newborn Screening
45. The Genetic Landscape and Epidemiology of Phenylketonuria
46. Neonatal Screening
47. Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study
48. Robert Guthrie and the Trials and Tribulations of Newborn Screening
49. Ethical and Psychosocial Implications of Genomic Newborn Screening
50. Newborn Screening
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