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62. Severe type II Gaucher disease with ichthyosis, arthrogryposis and neuronal apoptosis: molecular and pathological analyses. Finn LS; Zhang M; Chen SH; Scott CR Am J Med Genet; 2000 Mar; 91(3):222-6. PubMed ID: 10756347 [TBL] [Abstract][Full Text] [Related]
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65. Identification of Gaucher disease mutations found in Saudi Arabia. Kaya N; Al-Zahrani F; Al-Odaib A; Rahbeeni Z; Al-Hassnan Z; Al-Sharif F; Ozand P; Al-Sayed M Blood Cells Mol Dis; 2008; 41(2):200-1. PubMed ID: 18586535 [No Abstract] [Full Text] [Related]
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67. Simplified detection of Nci mutation in Gaucher disease. Dahl N; Lagerström M; Erikson A; Pettersson U Lancet; 1990 Jun; 335(8705):1589-90. PubMed ID: 1972504 [No Abstract] [Full Text] [Related]
68. Y418C: a novel mutation in exon 9 of the glucocerebrosidase gene of a patient with Gaucher disease creates a new Bgl I site. Tuteja R; Tuteja N; Lilliu F; Bembi B; Galanello R; Cao A; Baralle FE Hum Genet; 1994 Sep; 94(3):314-5. PubMed ID: 8076951 [No Abstract] [Full Text] [Related]
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70. Large soft-tissue masses in an adult patient with Gaucher disease. Mahajan N; Brynes R; Yano S J Inherit Metab Dis; 2016 Nov; 39(6):887-888. PubMed ID: 27503099 [TBL] [Abstract][Full Text] [Related]
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73. Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese. Amaral O; Pinto E; Fortuna M; Lacerda L; Sá Miranda MC Hum Mutat; 1996; 8(3):280-1. PubMed ID: 8889591 [No Abstract] [Full Text] [Related]
74. Mutations causing Gaucher disease. Horowitz M; Zimran A Hum Mutat; 1994; 3(1):1-11. PubMed ID: 8118460 [TBL] [Abstract][Full Text] [Related]
75. [Type 1 Gaucher disease in a pediatric patient: 12 year's evolution]. García M; Casanova C; Chabás A; Viosca E; Martínez B Sangre (Barc); 1997 Jun; 42(3):227-9. PubMed ID: 9381267 [TBL] [Abstract][Full Text] [Related]