A French experience of type 3 Gaucher disease: Phenotypic diversity and neurological outcome of 10 patients

Phenotype, diagnosis, and treatment of Gaucher's disease

Gregory A. Grabowski · The Lancet · 2008 · 621 citations

Mendelian Disorder, Genetic Disorder, Pathology +3

Analysis and Classification of 304 Mutant Alleles in Patients with Type 1 and Type 3 Gaucher Disease

Vuk Koprivica, Deborah L. Stone, Joseph K. Park et al. · The American Journal of Human Genetics · 2000 · 324 citations · Full text

Type 1, Genetic Diseases, Allelic Variant +10

Randomized, controlled trial of miglustat in Gaucher's disease type 3

Raphael Schiffmann, Edmond J. FitzGibbon, Chris Harris et al. · Annals of Neurology · 2008 · 232 citations · Full text

The efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher’s disease

Gheona Altarescu, Suvimol Hill, Edyth Wiggs et al. · The Journal of Pediatrics · 2001 · 169 citations

Neurodegenerative Diseases, Enzyme Replacement Therapy, Substrate Reduction Therapy +3

Phenotypic continuum in neuronopathic gaucher disease: an intermediate phenotype between type 2 and type 3

Özlem Göker-Alpan, Raphael Schiffmann, Joseph K. Park et al. · The Journal of Pediatrics · 2003 · 163 citations

Neurodegenerative Diseases, Intermediate Phenotype, Genetics +6