Helen Michelakakis

Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece

Bénédicte Héron, Yann Mikaeloff, Roseline Froissart et al. · American Journal of Medical Genetics Part A · 2010 · 165 citations

Medicine, Neurology, Pediatrics +13

Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II

M M Hermans, Dik van Leenen, Marian A. Kroos et al. · Human Mutation · 2003 · 152 citations

Life Sciences, Genetics, Molecular Genetics +15

Force Majeure: Therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease

Carla E. M. Hollak, Stephan vom Dahl, Johannes M. F. G. Aerts et al. · Blood Cells Molecules and Diseases · 2009 · 95 citations

Pharmacy, Biochemistry, Pharmacotherapy +3

Plasma tumor necrosis factor-a (TNF-a) levels in Gaucher disease

Helen Michelakakis, Cleopatra Spanou, A. P. Kondyli et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 1996 · 89 citations

Medicine, Immunology, Pathology +5

TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation

Jos C. Jansen, Sharita Timal, Monique van Scherpenzeel et al. · The American Journal of Human Genetics · 2016 · 89 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +9