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2. Gaucher disease: from fundamental research to effective therapeutic interventions. de Fost M, Aerts JM, Hollak CE. Neth J Med; 2003 Jan; 61(1):3-8. PubMed ID: 12688562 [Abstract] [Full Text] [Related]
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10. Ophthalmic manifestations of Gaucher disease: the most common lysosomal storage disorder. Winter AW, Salimi A, Ospina LH, Roos JCP. Br J Ophthalmol; 2019 Mar; 103(3):315-326. PubMed ID: 30612093 [Abstract] [Full Text] [Related]
11. Genetic heterogeneity in Gaucher disease: physicokinetic and immunologic studies of the residual enzyme in cultured fibroblasts from non-neuronopathic and neuronopathic patients. Grabowski GA, Goldblatt J, Dinur T, Kruse J, Svennerholm L, Gatt S, Desnick RJ. Am J Med Genet; 1985 Jul; 21(3):529-49. PubMed ID: 3927728 [Abstract] [Full Text] [Related]
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14. Type 2 Gaucher disease with hydrops fetalis in an Ashkenazi Jewish family resulting from a novel recombinant allele and a rare splice junction mutation in the glucocerebrosidase locus. Reissner K, Tayebi N, Stubblefield BK, Koprivica V, Blitzer M, Holleran W, Cowan T, Almashanu S, Maddalena A, Karson EM, Sidransky E. Mol Genet Metab; 1998 Apr; 63(4):281-8. PubMed ID: 9635296 [Abstract] [Full Text] [Related]
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19. Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestation. Orvisky E, Sidransky E, McKinney CE, Lamarca ME, Samimi R, Krasnewich D, Martin BM, Ginns EI. Pediatr Res; 2000 Aug; 48(2):233-7. PubMed ID: 10926300 [Abstract] [Full Text] [Related]
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