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25. Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S). Bodamer OA; Church HJ; Cooper A; Wraith JE; Scott CR; Scaglia F Am J Med Genet; 2002 May; 109(4):328-31. PubMed ID: 11992489 [TBL] [Abstract][Full Text] [Related]
27. Type I Gaucher's disease with homozygous R463C mutation without neurological involvement. Bolaman Z; Kadikoylu G; Levi E; Barutca S; Temucin K Haematologia (Budap); 2002; 32(4):487-93. PubMed ID: 12803123 [TBL] [Abstract][Full Text] [Related]
28. Parkinsonism in Gaucher's disease type 1: ten new cases and a review of the literature. Kraoua I; Stirnemann J; Ribeiro MJ; Rouaud T; Verin M; Annic A; Rose C; Defebvre L; Réménieras L; Schüpbach M; Belmatoug N; Vidailhet M; Sedel F Mov Disord; 2009 Jul; 24(10):1524-30. PubMed ID: 19513999 [TBL] [Abstract][Full Text] [Related]
29. Gaucher's disease: advances and challenges. Martin BM; Sidransky E; Ginns EI Adv Pediatr; 1989; 36():277-306. PubMed ID: 2675571 [No Abstract] [Full Text] [Related]
31. Lessons learned from the development of enzyme therapy for Gaucher disease. Barranger JA; O'Rourke E J Inherit Metab Dis; 2001; 24 Suppl 2():89-96; discussion 87-8. PubMed ID: 11758684 [TBL] [Abstract][Full Text] [Related]
32. Gaucher disease: complexity in a "simple" disorder. Sidransky E Mol Genet Metab; 2004; 83(1-2):6-15. PubMed ID: 15464415 [TBL] [Abstract][Full Text] [Related]
33. Children with type I Gaucher disease: growing into adulthood with and without enzyme therapy. Zimran A; Abrahamov A; Elstein D Isr Med Assoc J; 2000 Feb; 2(2):80-1. PubMed ID: 10804921 [No Abstract] [Full Text] [Related]
34. Effective cell and gene therapy in a murine model of Gaucher disease. Enquist IB; Nilsson E; Ooka A; Månsson JE; Olsson K; Ehinger M; Brady RO; Richter J; Karlsson S Proc Natl Acad Sci U S A; 2006 Sep; 103(37):13819-24. PubMed ID: 16954197 [TBL] [Abstract][Full Text] [Related]
35. Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease. Stone DL; Tayebi N; Orvisky E; Stubblefield B; Madike V; Sidransky E Hum Mutat; 2000; 15(2):181-8. PubMed ID: 10649495 [TBL] [Abstract][Full Text] [Related]
36. [From gene to disease; Gaucher disease]. Hollak CE; Boot RG; Poorthuis BJ; Aerts JM Ned Tijdschr Geneeskd; 2005 Sep; 149(39):2163-6. PubMed ID: 16223076 [TBL] [Abstract][Full Text] [Related]
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38. Aminocyclitols as pharmacological chaperones for glucocerebrosidase, a defective enzyme in Gaucher disease. Egido-Gabás M; Canals D; Casas J; Llebaria A; Delgado A ChemMedChem; 2007 Jul; 2(7):992-4. PubMed ID: 17479993 [No Abstract] [Full Text] [Related]
39. Promising results of the chaperone effect caused by imino sugars and aminocyclitol derivatives on mutant glucocerebrosidases causing Gaucher disease. Sánchez-Ollé G; Duque J; Egido-Gabás M; Casas J; Lluch M; Chabás A; Grinberg D; Vilageliu L Blood Cells Mol Dis; 2009; 42(2):159-66. PubMed ID: 19167250 [TBL] [Abstract][Full Text] [Related]
40. Pharmacologic chaperoning as a strategy to treat Gaucher disease. Yu Z; Sawkar AR; Kelly JW FEBS J; 2007 Oct; 274(19):4944-50. PubMed ID: 17894779 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]