Pinto R - Search Results

1

T cell numbers relate to bone involvement in Gaucher disease.

Lacerda L, Arosa FA, Lacerda R, Cabeda J, Porto G, Amaral O, Fortuna A, Pinto R, Oliveira P, McLaren CE, Sá Miranda C, de Sousa M. Lacerda L, et al. Among authors: pinto r. Blood Cells Mol Dis. 1999 Apr;25(2):130-8. doi: 10.1006/bcmd.1999.0237. Blood Cells Mol Dis. 1999. PMID: 10389595 Free article.

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

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.

4

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

5

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

6

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

7

Glucose-6-phosphate dehydrogenase aveiro: a de novo mutation associated with chronic nonspherocytic hemolytic anemia.

Costa E, Cabeda JM, Vieira E, Pinto R, Pereira SA, Ferraz L, Santos R, Barbot J. Costa E, et al. Among authors: pinto r. Blood. 2000 Feb 15;95(4):1499-501. Blood. 2000. PMID: 10666231 Free article.

8

X-linked adrenoleukodystrophy in patients with idiopathic Addison disease.

Jorge P, Quelhas D, Oliveira P, Pinto R, Nogueira A. Jorge P, et al. Among authors: pinto r. Eur J Pediatr. 1994 Aug;153(8):594-7. doi: 10.1007/BF02190668. Eur J Pediatr. 1994. PMID: 7957408

9

Identification of GM2-gangliosidosis B1 variant carriers.

Ribeiro MG, Pinto R, Oliveira P, Sá Miranda MC. Ribeiro MG, et al. Among authors: pinto r. J Inherit Metab Dis. 1993;16(6):1003-11. doi: 10.1007/BF00711518. J Inherit Metab Dis. 1993. PMID: 8127050

10

Prevalence of lysosomal storage diseases in Portugal.

Pinto R, Caseiro C, Lemos M, Lopes L, Fontes A, Ribeiro H, Pinto E, Silva E, Rocha S, Marcão A, Ribeiro I, Lacerda L, Ribeiro G, Amaral O, Sá Miranda MC. Pinto R, et al. Among authors: pinto e. Eur J Hum Genet. 2004 Feb;12(2):87-92. doi: 10.1038/sj.ejhg.5201044. Eur J Hum Genet. 2004. PMID: 14685153

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