Lysosomal Storage Diseases

Lipinski SE, Lipinski MJ, Burnette A, Platts-Mills TA, Wilson WG. Desensitization of an adult patient with Pompe disease and a history of anaphylaxis to alglucosidase alfa. Mol Genet Metab (2009) 98:319-21.
Wraith JE, Guffon N, Rohrbach M, Hwu WL, Korenke GC, Bembi B, Luzy C, Giorgino R, Sedel F. Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study. Mol Genet Metab (2009) 98:250-4.
Pineda M, Wraith JE, Mengel E, Sedel F, Hwu WL, Rohrbach M, Bembi B, Walterfang M, Korenke GC, Marquardt T, Luzy C, Giorgino R, Patterson MC. Miglustat in patients with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort study. Mol Genet Metab (2009) 98:243-9.
Kishnani PS, DiRocco M, Kaplan P, Mehta A, Pastores GM, Smith SE, Puga AC, Lemay RM, Weinreb NJ. A randomized trial comparing the efficacy and safety of imiglucerase (Cerezyme) infusions every 4 weeks versus every 2 weeks in the maintenance therapy of adult patients with Gaucher disease type 1. Mol Genet Metab (2009);96:164-70.
Machaczka M, Klimkowska M, Hägglund H. Effort bruising disclosing Gaucher disease in a 55-year-old non-Jewish woman. J Inherit Metab Dis (2009) 32:758-761.
Crosbie TW, Packman W, Packman S. Psychological aspects of patients with Fabry disease. J Inherit Metab Dis (2009) 32:745-753.
Hoffmann B. Fabry disease: Recent advances in pathology, diagnosis, treatment and monitoring. Orphanet J Rare Dis (2009) 11:21.
Dilger HJ, Leissner E, Bosanska L, Lampe C, Beck M, Plöckinger U Illness Perceptions and Clinical Treatment Experiences in Patients with M. Maroteaux-Lamy (Mucopolysaccharidosis Type VI) and a Turkish Migration Background in Germany. PlosONE (2013) Jun 24;8(6).

Association for the Studyof Inborn Errors of Metabolism in Adults

Lysosomal Storage Diseases

Association for the Study
of Inborn Errors of Metabolism in Adults