The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease.

Author:

Sidransky E,Tayebi N,Stubblefield B K,Eliason W,Klineburgess A,Pizzolato G P,Cox J N,Porta J,Bottani A,DeLozier-Blanchet C D

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference23 articles.

1. Gaucher disease;Fredrickson, D.S.; Sloan, H.R.,1978

2. Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene;Sidransky, E.; Sherer, D.; El, Ginns;Pediatr Res,1992

3. Targeted disruption of the mouse glucocerebrosidase gene: development of an animal model of Gaucher disease;Tybulewicz, V.; Tremblay, M.L.; LaMarca, M.E.;Nature,1992

4. Congenital ichthyosis with restrictive dermopathy and Gaucher's disease: a new syndrome with associated prenatal diagnostic and pathology findings;Sherer, D.M.; Metlay, L.; Sinkin, R.A.; Mongeon, C.; Lee, R.E.; Woods, JR;Obstet Gynecol,1993

5. Homozygous presence of the crossover (fusion gene) mutation identified in a type II Gaucher disease fetus: is this analogous to the Gaucher knock-out mouse model?;Strasberg, P.M.; Skomorowski, M.A.; Warren, I.B.; Hilson, W.L.; Callahan, J.W.; Clarke, J.T.R.;Biochem Med Metabol Biol,1994

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