I treasure the opportunity to form meaningful relationships with MPS patients and their families, and to offer support as we learn more about these challenging diseases.
Where I see patients (1)
Selected research
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Long-term efficacy and safety of arimoclomol in Niemann-Pick disease type C: Final results of the phase 2/3 NPC-002 48-month open-label extension trial.
Molecular genetics and metabolism
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Unmet needs of adults living with mucopolysaccharidosis II: data from the Hunter Outcome Survey.
Orphanet journal of rare diseases
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Efficacy results from a 12-month double-blind randomized trial of arimoclomol for treatment of Niemann-Pick disease type C (NPC): Presenting a rescored 4-domain NPC Clinical Severity Scale.
Molecular genetics and metabolism reports
Clinical trials
A Study of ELAPRASE in Treatment-naïve Participants With Hunter Syndrome (Mucopolysaccharidosis...
Serum samples will be collected for evaluation of anti-idursulfase antibodies including binding antibodies and neutralizing antibodies. Analysis of anti-idursulfase antibodies will be conducted using validated 3-tier immunoassay m...
Recruiting
More about this studyA Study to Determine the Efficacy and Safety of Tividenofusp Alfa (DNL310) vs Idursulfase in Pe...
Recruiting
More about this studyPhase 1 Study of GC1130A in Patients With Sanfilippo Syndrome Type A (MPS IIIA)
Recruiting
More about this studyContact me
Stress-free visits
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