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175 results on '"Paul Harmatz"'

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1. Chemically modified recombinant human sulfamidase (SOBI003) in mucopolysaccharidosis IIIA patients: Results from an open, non-controlled, multicenter study

2. Long-term outcomes of patients with mucopolysaccharidosis VI treated with galsulfase enzyme replacement therapy since infancy

3. Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study

4. Long-term open-label extension study of the safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II

5. Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints

6. The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII

7. Interim analysis of key clinical outcomes from a phase 1/2 study of weekly intravenous DNL310 (brain-penetrant enzyme replacement therapy) in MPS II

9. Farber disease clinical impact: Patient reported outcomes as a measure of disease burden

11. Enzyme replacement therapy initiated in adulthood: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program

12. Tralesinidase alfa (AX 250) enzyme replacement therapy for Sanfilippo syndrome type B

13. Natural history of Sanfilippo syndrome type B in young patients: Ongoing results from two large, prospective studies

15. Persistent effect of arimoclomol in patients with Niemann-Pick disease type C: 24-month results from an open-label extension of a pivotal phase 2/3 study

16. In utero enzyme replacement therapy in a fetus with infantile-onset Pompe disease

17. Fifteen years of the Hunter Outcome Survey (HOS): Real-world insights into the patient population living with mucopolysaccharidosis type II (MPS II)

18. Enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase): Novel global treatment response model and outcomes in patients with alpha-mannosidosis

19. Growth patterns in subjects with mucopolysaccharidosis VII

20. Comparison of cognitive function in siblings with neuronopathic mucopolysaccharidosis II: evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase-IT

21. Intrathecal idursulfase-IT safety and efficacy in patients with neuronopathic mucopolysaccharidosis II: phase 2/3 extension study 3-year results

23. Long-term safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis type II: 2-year results from a phase 2/3 extension study

24. Cognitive endpoints for therapy development for neuronopathic mucopolysaccharidoses: Results of a consensus procedure

25. Velmanase alfa enzyme replacement therapy for alpha-mannosidosis improves patient outcomes over standard of care both in terms of clinically relevant improvement and disease stabilization

26. Long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis type VII

27. Intrathecal enzyme replacement for cognitive decline in mucopolysaccharidosis type I, a randomized, open-label, controlled pilot study

28. Efficacy and safety of asfotase alfa in infants and young children with hypophosphatasia : a phase 2 open-label study

29. Vosoritide for children with achondroplasia: a 60-month update from an ongoing phase 2 clinical trial

30. Safety and efficacy of intrathecal idursulfase-IT in patients <3 years old with neuronopathic mucopolysaccharidosis II: phase 2/3 substudy and extension

31. Therapy for mucopolysaccharidosis type II with an intravenous blood-brain barrier-crossing enzyme (JR-141): Phase III global clinical trial design

32. RGX-121 gene therapy for severe mucopolysaccharidosis type II (MPS II): Interim results of an ongoing first in human trial

34. Persistent effect of arimoclomol in patients with Nuemann-Pick disease type C: 12-month results from an open-label extension of a pivotal phase 2/3 study

35. In utero enzyme replacement therapy in fetuses with lysosomal diseases: A phase I clinical trial

36. Comparison of cognitive function in siblings with neuronopathic mucopolysaccharidosis type II: Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase-IT

37. Single-arm, open-label, phase 2/3 substudy and extension evaluating safety and efficacy of intrathecal idursulfase-IT in patients younger than 3 years old with neuronopathic mucopolysaccharidosis type II

38. Design and preliminary results of a first-in-human, 24-week study of intravenous DNL310 (brain-penetrant IDS) in MPS II

39. Corrigendum to 'The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII' [Mol Genet Metab 2020 Mar;129(3):219–227]

40. Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI): Symptoms and the impact on function and activities of daily living (ADL)

42. Farber disease (acid ceramidase deficiency) natural history study: Prospective and retrospective clinical data

43. Efficacy and safety of arimoclomol in patients with Niemann-Pick disease type C: Results from a double-blind, randomized placebo-controlled trial with a novel treatment

44. A new randomized placebo-controlled study to establish the safety and efficacy of velmanase alfa (human recombinant alpha-mannosidase) enzyme replacement therapy for the treatment of alpha-mannosidosis

45. Natural history data for young subjects with Sanfilippo Syndrome Type B (MPS IIIB)

46. Global treatment response analysis of velmanase alfa long term enzyme replacement therapy for alpha-mannosidosis shows treatment benefit across ages

47. Global treatment responder analysis demonstrates clinically relevant effect of velmanase alfa long term enzyme replacement therapy for alpha mannosidosis, in a phase III randomized placebo controlled trial

48. Farber disease (acid ceramidase deficiency): Data from an ongoing natural history study

49. Evaluation of the long-term treatment effects of idursulfase using statistical modelling: Data from the Hunter Outcome Survey (HOS)

50. Safety of laronidase delivered into the spinal canal for treatment of cervical stenosis in mucopolysaccharidosis I

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