6 Result(s)

Article

Long term disease burden post-transplantation: three decades of observations in 25 Hurler patients successfully treated with hematopoietic stem cell transplantation (HSCT)

Mucopolysaccharidosis type I-Hurler syndrome (MPSI-H) is a lysosomal storage disease characterized by severe physical symptoms and cognitive decline. Early treatment with hematopoietic cell transplant (HSCT) i...

N. Guffon, M. Pettazzoni, N. Pangaud, C. Garin… in Orphanet Journal of Rare Diseases (2021)

Article

Clinical outcomes in a subpopulation of adults with Morquio A syndrome: results from a long-term extension study of elosulfase alfa

This post hoc subanalysis examined outcomes in adult patients with Morquio A (mucopolysaccharidosis IVA) who received enzyme replacement therapy (ERT) with elosulfase alfa over a 120-weeks period. Patients ≥18...

D. Hughes, R. Giugliani, N. Guffon, S. A. Jones… in Orphanet Journal of Rare Diseases (2017)

Article

Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme^®) therapy

Characteristic cardiac valve abnormalities and left ventricular hypertrophy are present in untreated patients with mucopolysaccharidosis type VI (MPS VI). Cardiac ultrasound was performed to investigate these ...

E. Braunlin, H. Rosenfeld, C. Kampmann… in Journal of Inherited Metabolic Disease (2013)

Article

Erratum to: Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters

F. Hörster, S. F. Garbade, T. Zwickler… in Journal of Inherited Metabolic Disease (2009)

Article

169 Update on Enzyme Replacement Therapy (ERT) with Recombinant Human Arylsulfatase B (RHASB) for MPS VI (Maroteaux-Lamy)

MPS VI is a rare, life-threatening lysosomal storage disease with no effective treatment. ERT with rhASB has shown promising results in 2 clinical studies. The objective of this Phase 3 study was to confirm ef...

P Harmatz, R Giugliani, I Schwartz, N Guffon, CSA Miranda, E Teles… in Pediatric Research (2005)

Article

Outcome of 21 Children with Hurler Syndrome Transplanted from Related or Unrelated Donors

G Souillet, N Guffon, I Maire, P Guibaud, N Philippe in Pediatric Research (1999)