Disease and patient characteristics in NP-C patients: findings from an international disease registry
Marc C. Patterson(Mayo Clinic), Mercè Pineda(Hospital Sant Joan de Déu Barcelona), Barbara Schwierin(Actelion (Switzerland)), Audrey Muller(Johnson & Johnson (Switzerland)), Harir Drevon(Wokingham Hospital), Marie T. Vanier(Hospices Civils de Lyon), Eugen Mengel(University of Hohenheim), Frits A. Wijburg(Emma Kinderziekenhuis)
Cited by 197
Related Papers
Niemann-Pick disease type C
|Orphanet Journal of Rare Diseases|2010|1.2k
Elevated globotriaosylsphingosine is a hallmark of Fabry disease
|Proceedings of the National Academy of Sciences|2008|725
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
|Orphanet Journal of Rare Diseases|2014|713
Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update
|Molecular Genetics and Metabolism|2012|478