Article
Disease severity in sibling pairs with type 1 Gaucher disease.
Journal of inherited metabolic disease - 1 Feb 2010
Elstein Deborah, Gellman Ayelet, Altarescu Gheona, Abrahamov Aya, Hadas-Halpern Irith, Phillips Mici, Margalit Maya, Lebel Ehud, Itzchaki Menachem, Zimran Ari
Abstract excerpt
The only prognostic markers in Gaucher disease, the most common lysosomal storage disorder, are young age at first symptom/sign and the presence of null/severe mutations, both being predictive of more severe phenotypes. Therefore, it would be helpful to know whether siblings with the same genotype can be expected to experience comparable phenotypic expression. All non-neuronopathic sibling pairs in our referral...
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