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Journal Abstract Search
166 related items for PubMed ID: 9057400
1. Clinical and enzyme studies in Gaucher disease. Kaur M, Kabra M, Kher A, Naik G, Bharucha BA, Verma IC. Indian Pediatr; 1996 Sep; 33(9):735-8. PubMed ID: 9057400 [Abstract] [Full Text] [Related]
2. Gaucher's disease. I. Modern enzymatic and anatomic methods of diagnosis. Lee RE, Robinson DB, Glew RH. Arch Pathol Lab Med; 1981 Feb; 105(2):102-4. PubMed ID: 6779779 [Abstract] [Full Text] [Related]
3. Heterozygote detection of type I Gaucher disease using blood platelets. Nakagawa S, Kumin S, Sachs G, Nitowsky HM. Prog Clin Biol Res; 1982 Feb; 95():597-602. PubMed ID: 6812088 [No Abstract] [Full Text] [Related]
4. Gaucher type I (Ashkenazi) disease: considerations for heterozygote detection and prenatal diagnosis. Grabowski GA, Dinur T, Gatt S, Desnick RJ. Prog Clin Biol Res; 1982 Feb; 95():573-95. PubMed ID: 6812087 [No Abstract] [Full Text] [Related]
5. [A case of adult Gaucher disease]. Werling K, Lengyel G, Vallent K, Zalatnai A, Burger M, Laky J. Orv Hetil; 1992 Oct 11; 133(41):2631-4. PubMed ID: 1408099 [Abstract] [Full Text] [Related]
6. Gaucher disease: accurate identification of asymptomatic French-Canadian carrier using nonlabeled authentic sphingolipid substrate N-palmitoyl dihydroglucocerebroside. Choy FY, Bouillon L, Laurin CA. Am J Med Genet; 1987 Aug 11; 27(4):895-905. PubMed ID: 3425599 [Abstract] [Full Text] [Related]
7. Clinical consequences of interrupting enzyme replacement therapy in children with type 1 Gaucher disease. Drelichman G, Ponce E, Basack N, Freigeiro D, Aversa L, Graciela E, Kohan R. J Pediatr; 2007 Aug 11; 151(2):197-201. PubMed ID: 17643778 [Abstract] [Full Text] [Related]
8. The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis. Kaplan P, Andersson HC, Kacena KA, Yee JD. Arch Pediatr Adolesc Med; 2006 Jun 11; 160(6):603-8. PubMed ID: 16754822 [Abstract] [Full Text] [Related]
9. Clinical variation in 2 related children with neuronopathic Gaucher disease. Grover WD, Tucker SH, Wenger DA. Ann Neurol; 1978 Mar 11; 3(3):281-3. PubMed ID: 96723 [Abstract] [Full Text] [Related]
10. [Gaucher disease: diagnosis and treatment]. Fumić K, Stavljenić-Rukavina A, Mrsić M, Potocki K. Acta Med Croatica; 2004 Mar 11; 58(5):353-8. PubMed ID: 15756799 [Abstract] [Full Text] [Related]
11. [Biochemical and genetic diagnosis of Gaucher disease and its phenotypical heterogeneity]. Beĭer EM, Bukina TM, Tsvetkova IV. Vopr Med Khim; 2000 Mar 11; 46(5):451-4. PubMed ID: 11204625 [Abstract] [Full Text] [Related]
12. 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 Mar 11; 95():33-65. PubMed ID: 6289358 [No Abstract] [Full Text] [Related]
13. Sodium taurocholate effect on beta-glucosidase activity: a new approach for identification of Gaucher disease using the synthetic substrate and leucocytes. Magalhães J, Sá Miranda MC, Pinto R, Lemos M, Poenaru L. Clin Chim Acta; 1984 Aug 31; 141(2-3):111-8. PubMed ID: 6435915 [Abstract] [Full Text] [Related]
14. [Gaucher's disease. Longitudinal-study in 17 patients in a 10-year period (1970-1980) (author's transl)]. Di Rocco M, Salemi D, Borrone C. Pediatr Med Chir; 1981 Aug 31; 3(6):487-94. PubMed ID: 7343946 [Abstract] [Full Text] [Related]
15. [Enzyme replacement therapy for Gaucher disease introduced in late adulthood]. Juhász P, Tóth B, Maródi L, Erdos M. Orv Hetil; 2012 Feb 19; 153(7):264-70. PubMed ID: 22318527 [Abstract] [Full Text] [Related]
16. Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: identification and expression of a novel acid beta-glucosidase mutation. Wasserstein MP, Martignetti JA, Zeitlin R, Lumerman H, Solomon M, Grace ME, Desnick RJ. Am J Med Genet; 1999 Jun 04; 84(4):334-9. PubMed ID: 10340647 [Abstract] [Full Text] [Related]
17. [The possibility of increasing the precision of biochemical diagnostics of Gaucher disease]. Horovenko NH, Drozdova VD, Nedoboĭ AM, Ol'khovych NV, Pichkur NO, Tsyhankova MA, Radzikhovs'ka OV. Tsitol Genet; 2006 Jun 04; 40(3):67-71. PubMed ID: 16933855 [Abstract] [Full Text] [Related]
18. [Laboratory diagnosis of lysosomal storage disease (glycoproteinosis Pompe's disease and Gaucher disease)]. Shi HP, Zhang GX, Guo YF, Fang BL, Zhang WM, Chen F, Luo HY. Zhongguo Yi Xue Ke Xue Yuan Xue Bao; 1985 Dec 04; 7(6):475-7. PubMed ID: 2940012 [No Abstract] [Full Text] [Related]
19. [Gaucher disease type I diagnosed at 63 years old presenting with thrombocytopenia]. Kawahara S, Kato A, Oshimi K, Ida H. Rinsho Ketsueki; 2008 May 04; 49(5):335-9. PubMed ID: 18572811 [Abstract] [Full Text] [Related]
20. Non-neuronopathic Gaucher disease due to saposin C deficiency. Tylki-Szymańska A, Czartoryska B, Vanier MT, Poorthuis BJ, Groener JA, Ługowska A, Millat G, Vaccaro AM, Jurkiewicz E. Clin Genet; 2007 Dec 04; 72(6):538-42. PubMed ID: 17919309 [Abstract] [Full Text] [Related] Page: [Next] [New Search]