Pinto R - Search Results

1

Activity of glucocerebrosidase in extracts of different cell types from type 1 Gaucher disease patients.

Sa Miranda MC, Aerts JM, Pinto R, Fontes A, de Lacerda LW, van Weely S, Barranger J, Tager JM. Sa Miranda MC, et al. Among authors: pinto r. Clin Genet. 1990 Sep;38(3):218-27. doi: 10.1111/j.1399-0004.1990.tb03573.x. Clin Genet. 1990. PMID: 2225530

2

Gaucher disease: N370S glucocerebrosidase gene frequency in the Portuguese population.

Lacerda L, Amaral O, Pinto R, Oliveira P, Aerts J, Sá Miranda MC. Lacerda L, et al. Among authors: pinto r. Clin Genet. 1994 Jun;45(6):298-300. doi: 10.1111/j.1399-0004.1994.tb04034.x. Clin Genet. 1994. PMID: 7923859

3

The N370S mutation in the glucocerebrosidase gene of Portuguese type 1 Gaucher patients: linkage to the PvuII polymorphism.

Lacerda L, Amaral O, Pinto R, Aerts J, Sá Miranda MC. Lacerda L, et al. Among authors: pinto r. J Inherit Metab Dis. 1994;17(1):85-8. doi: 10.1007/BF00735401. J Inherit Metab Dis. 1994. PMID: 8051940

4

Molecular characterisation of type 1 Gaucher disease families and patients: intrafamilial heterogeneity at the clinical level.

Amaral O, Fortuna AM, Lacerda L, Pinto R, Sa Miranda MC. Amaral O, et al. Among authors: pinto r. J Med Genet. 1994 May;31(5):401-4. doi: 10.1136/jmg.31.5.401. J Med Genet. 1994. PMID: 8064820 Free PMC article.

5

Identification of Gaucher disease carriers: glucocerebrosidase antigen and DNA analysis.

Lacerda L, Amaral O, Pinto R, Aerts J, Sá Miranda MC. Lacerda L, et al. Among authors: pinto r. Biochem Med Metab Biol. 1993 Oct;50(2):190-6. doi: 10.1006/bmmb.1993.1061. Biochem Med Metab Biol. 1993. PMID: 8260196

6

Heterogeneity in human acid beta-glucosidase revealed by cellulose-acetate electrophoresis.

Sa Miranda MC, Aerts JM, Pinto RA, Magalhaes JA, Barranger JA, Tager JM, Schram AW. Sa Miranda MC, et al. Among authors: pinto ra. Biochim Biophys Acta. 1988 May 12;965(2-3):163-8. doi: 10.1016/0304-4165(88)90052-9. Biochim Biophys Acta. 1988. PMID: 3130106

7

Type 1 Gaucher disease: molecular, biochemical, and clinical characterization of patients from northern Portugal.

Amaral O, Lacerda L, Santos R, Pinto RA, Aerts H, Sa Miranda MC. Amaral O, et al. Among authors: pinto ra. Biochem Med Metab Biol. 1993 Feb;49(1):97-107. doi: 10.1006/bmmb.1993.1011. Biochem Med Metab Biol. 1993. PMID: 8439454

8

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. Magalhães J, et al. Among authors: pinto r. Clin Chim Acta. 1984 Aug 31;141(2-3):111-8. doi: 10.1016/0009-8981(84)90003-2. Clin Chim Acta. 1984. PMID: 6435915

9

Biochemical characterization of beta-hexosaminidase in different biological specimens from eleven patients with GM2-gangliosidosis B1 variant.

Ribeiro MG, Pinto RA, Dos Santos MR, Maia M, Sá Miranda MC. Ribeiro MG, et al. Among authors: pinto ra. J Inherit Metab Dis. 1991;14(5):715-20. doi: 10.1007/BF01799940. J Inherit Metab Dis. 1991. PMID: 1838125

10

Clinical, enzymatic, and molecular characterisation of a Portuguese family with a chronic form of GM2-gangliosidosis B1 variant.

Ribeiro MG, Sonin T, Pinto RA, Fontes A, Ribeiro H, Pinto E, Palmeira MM, Sá Miranda MC. Ribeiro MG, et al. Among authors: pinto ra, pinto e. J Med Genet. 1996 Apr;33(4):341-3. doi: 10.1136/jmg.33.4.341. J Med Genet. 1996. PMID: 8730294 Free PMC article.

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