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23. Identification and characterization of a novel mutation c.1090G>T (G325W) and nine common mutant alleles leading to Gaucher disease in Spanish patients. Torralba MA; Pérez-Calvo JI; Pastores GM; Cenarro A; Giraldo P; Pocoví M Blood Cells Mol Dis; 2001; 27(2):489-95. PubMed ID: 11259172 [TBL] [Abstract][Full Text] [Related]
24. Congenital ichthyosis in severe type II Gaucher disease with a homozygous null mutation. Haverkaemper S; Marquardt T; Hausser I; Timme K; Kuehn T; Hertzberg C; Rossi R Neonatology; 2011; 100(2):194-7. PubMed ID: 21455010 [TBL] [Abstract][Full Text] [Related]
25. Enzyme replacement therapy of infantile Gaucher disease. Erikson A; Johansson K; Månsson JE; Svennerholm L Neuropediatrics; 1993 Aug; 24(4):237-8. PubMed ID: 8232786 [TBL] [Abstract][Full Text] [Related]
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30. Gaucher type 2 disease: identification of a novel transversion mutation in a French-Irish patient. Choy FY; Humphries ML; Ben-Yoseph Y Am J Med Genet; 1998 Jun; 78(1):92-3. PubMed ID: 9637431 [No Abstract] [Full Text] [Related]
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33. Phenotypic manifestations of Gaucher disease: clinical features in 48 biochemically verified type 1 patients and comment on type 2 patients. Kolodny EH; Ullman MD; Mankin HJ; Raghavan SS; Topol J; Sullivan JL Prog Clin Biol Res; 1982; 95():33-65. PubMed ID: 6289358 [No Abstract] [Full Text] [Related]
34. Phenotypic heterogeneity in patients with Gaucher disease and the N370S/V394L genotype. Elstein D; Scott CR; Zeigler M; Abrahamov A; Zimran A Genet Test; 2005; 9(1):26-9. PubMed ID: 15857183 [TBL] [Abstract][Full Text] [Related]
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36. Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease? Stone DL; van Diggelen OP; de Klerk JB; Gaillard JL; Niermeijer MF; Willemsen R; Tayebi N; Sidransky E Eur J Hum Genet; 1999; 7(4):505-9. PubMed ID: 10352942 [TBL] [Abstract][Full Text] [Related]
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