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

This publication has 15 references indexed in Scilit:

• Myoclonic Epilepsy in Gaucher Disease: Genotype-Phenotype Insights from a Rare Patient Subgroup
  Pediatric Research, 2003
• Reciprocal and Nonreciprocal Recombination at the Glucocerebrosidase Gene Region: Implications for Complexity in Gaucher Disease
  American Journal of Human Genetics, 2003
• Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease
  Human Mutation, 2000
• Intracellular transport of acid ?-glucosidase and lysosome-associated membrane proteins is affected in Gaucher's disease (G202R mutation)
  The Journal of Pathology, 1999
• Non–pseudogene-derived complex acid β-glucosidase mutations causing mild type 1 and severe type 2 Gaucher disease
  Journal of Clinical Investigation, 1999
• Hematologically Important Mutations: Gaucher Disease
  Blood Cells, Molecules, and Diseases, 1997
• Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype
  The Lancet, 1995
• Gaucher disease, a paradigm for single gene defects
  Cellular and Molecular Life Sciences, 1995
• The human glucocerebrosidase gene and pseudogene: Structure and evolution
  Genomics, 1989
• A Mutation in the Human Glucocerebrosidase Gene in Neuronopathic Gaucher's Disease
  New England Journal of Medicine, 1987