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5. Clinical and genetic studies of Japanese homozygotes for the Gaucher disease L444P mutation. Ida H; Rennert OM; Iwasawa K; Kobayashi M; Eto Y Hum Genet; 1999; 105(1-2):120-6. PubMed ID: 10480365 [TBL] [Abstract][Full Text] [Related]
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7. Gaucher disease among Chinese patients: review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles. Choy FY; Zhang W; Shi HP; Zay A; Campbell T; Tang N; Ferreira P Blood Cells Mol Dis; 2007; 38(3):287-93. PubMed ID: 17196853 [TBL] [Abstract][Full Text] [Related]
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9. [High dose of enzyme replacement therapy was successful for the pulmonary involvement in a case of type 2 Gaucher disease]. Arai N; Uematsu M; Abe Y; Fukuyo N; Wakusawa K; Kikuchi A; Sakamoto O; Ohura T; Tsuchiya S No To Hattatsu; 2010 Jan; 42(1):45-9. PubMed ID: 23858612 [TBL] [Abstract][Full Text] [Related]
11. Pulmonary function abnormalities in type I Gaucher disease. Kerem E; Elstein D; Abrahamov A; Bar Ziv Y; Hadas-Halpern I; Melzer E; Cahan C; Branski D; Zimran A Eur Respir J; 1996 Feb; 9(2):340-5. PubMed ID: 8777974 [TBL] [Abstract][Full Text] [Related]
12. Pulmonary involvement in type 1 Gaucher disease: functional and exercise findings in patients with and without clinical interstitial lung disease. Miller A; Brown LK; Pastores GM; Desnick RJ Clin Genet; 2003 May; 63(5):368-76. PubMed ID: 12752568 [TBL] [Abstract][Full Text] [Related]
13. Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: effect of the E326K change in neonatal and classic forms of the disease. Chabás A; Gort L; Díaz-Font A; Montfort M; Santamaría R; Cidrás M; Grinberg D; Vilageliu L Blood Cells Mol Dis; 2005; 35(2):253-8. PubMed ID: 15967693 [TBL] [Abstract][Full Text] [Related]
14. Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup. Park JK; Orvisky E; Tayebi N; Kaneski C; Lamarca ME; Stubblefield BK; Martin BM; Schiffmann R; Sidransky E Pediatr Res; 2003 Mar; 53(3):387-95. PubMed ID: 12595585 [TBL] [Abstract][Full Text] [Related]
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16. [Phenotype and mutational spectrum in Tunisian pediatric gaucher disease]. Ben Turkia H; Riahi I; Azzouz H; Ladab S; Cherif W; Ben Chehida A; Abdelmoula MS; Caillaud C; Chemli J; Abdelhak S; Tebib N; Ben Dridi MF Tunis Med; 2010 Mar; 88(3):158-62. PubMed ID: 20415187 [TBL] [Abstract][Full Text] [Related]
17. [Role of diagnostic imaging in the assessment of lung complications of burns]. Sergiacomi GL; Mazzetti di Pietralata G; Moscone A; Ciorra DM; Motta MR; Palmisano P; Simonetti G Radiol Med; 1998 Nov; 96(5):454-61. PubMed ID: 10051868 [TBL] [Abstract][Full Text] [Related]
18. Gaucher disease: heterologous expression of two alleles associated with neuronopathic phenotypes. Grace ME; Berg A; He GS; Goldberg L; Horowitz M; Grabowski GA Am J Hum Genet; 1991 Sep; 49(3):646-55. PubMed ID: 1909090 [TBL] [Abstract][Full Text] [Related]
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20. Retrospective study of pulmonary function tests in patients presenting with isolated reduction in single-breath diffusion capacity: implications for the diagnosis of combined obstructive and restrictive lung disease. Aduen JF; Zisman DA; Mobin SI; Venegas C; Alvarez F; Biewend M; Jolles HI; Keller CA Mayo Clin Proc; 2007 Jan; 82(1):48-54. PubMed ID: 17285785 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]