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kw.\*:("Esfingolipidosis hereditaria Fabry")

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Fabry's diseaseHQSHOLT, L; WANDALL, A; SOÊRENSEN, S. A et al.Clinical genetics. 1989, Vol 36, Num 5, pp 335-336, issn 0009-9163, 2 p.Conference Paper

A case of heterozygous Fabrýs disease with a short PR interval and giant negative T wavesYOKOYAMA, A; YAMAZOE, M; SHIBATA, A et al.British heart journal. 1987, Vol 57, Num 3, pp 296-299, issn 0007-0769Article

Enzyme replacement in Fabry endothelial cells and fibroblasts: uptake experiments and electron microscopical studiesHASHOLT, L; WANDALL, A; SORENSEN, S. A et al.Clinical genetics. 1988, Vol 33, Num 5, pp 360-371, issn 0009-9163Article

Pulmonary vasculature in Fabry's diseaseSMITH, P; HEATH, D; RODGERS, B et al.Histopathology. 1991, Vol 19, Num 6, pp 567-569, issn 0309-0167Article

Restricted accumulation of globotriaosylceramide in the hearts of atypical cases of Fabry's diseaseOGAWA, K; SUGAMATA, K; FUNAMOTO, N et al.Human pathology. 1990, Vol 21, Num 10, pp 1067-1073, issn 0046-8177Article

Priapism: a rare complication of Fabry's diseaseCHRISTODOULOU, J; DEWAN, P. A; TAN, H. L et al.Pediatric surgery international. 1988, Vol 4, Num 1, pp 69-70, issn 0179-0358Article

Human α-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzymeBISHOP, D. F; CALHOUN, D. H; BERNSTEIN, H. S et al.Proceedings of the National Academy of Sciences of the United States of America. 1986, Vol 83, Num 13, pp 4859-4863, issn 0027-8424Article

MALADIE DE FABRY ET MALADIE DE GAUCHER : CARACTERISATION MOLECULAIRE, CORRELATIONS GENOTYPE/PHENOTYPE ET PERSPECTIVES THERAPEUTIQUES = FABRY DISEASE AND GAUCHER DISEASE : MOLECULAR CHARACTERIZATION, GENOTYPE/PHENOTYPE CORRELATIONS, AND PROSPECT OF THERAPYGermain, Dominique; Poenaru, Livia.1999, 259 p.Thesis

Urinary neutral glycosphingolipid analysis of patients with Fabry's disease : rapid isocratic elution from high-performance liquid chromatography as per-o-benzoyl derivativesOSHIMA, M; ASANO, K; SHIBATA, S et al.Biochimica et biophysica acta. 1990, Vol 1043, Num 2, pp 157-160, issn 0006-3002, 4 p.Article

A propos d'un aspect inhabituel d'atteinte rétinienne dans la maladie de Fabry = About an unusual aspect of retinal effect in Fabry's diseaseAUDOUY, D; BORD, G; CHALVIGNAC, A et al.Bulletin des sociétés d'ophtalmologie de France. 1986, Vol 86, Num 5, pp 731-736, issn 0081-1270, 5 p.Article

Maladie de Fabry et syndrome de Klippel-Trenaunay des quatre membres = Fabrýs disease and Klippel trenaunay syndrome of the four limbsENJOLRAS, O; LEIBOWITCH, M; RICHE, M.-C et al.Annales de dermatologie et de vénéréologie. 1989, Vol 116, Num 11, pp 788-790, issn 0151-9638, 3 p.Conference Paper

Synthesis and processing of α-galactosidase A in human fibroblasts: evidence for different mutations in Fabry diseaseLEMANSKY, P; BISHOP, D. F; DESNICK, R. J et al.The Journal of biological chemistry (Print). 1987, Vol 262, Num 5, pp 2062-2065, issn 0021-9258Article

When chest pain reveals a Fabry diseaseLIDOVE, Olivier; IUNG, Bernard; HAPPLE, Rudolf et al.La Presse médicale (1983). 2011, Vol 40, Num 5, pp 540-544, issn 0755-4982, 5 p.Article

Distal Extremity Pain as a Presenting Feature of Fabry's DiseasePAGNINI, Ilaria; BORSINI, Walter; CECCHI, Franco et al.Arthritis care and research. 2011, Vol 63, Num 3, pp 390-395, issn 0893-7524, 6 p.Article

Fabry disease : An atypical presentationCHOUDHURY, Sourab; MEEHAN, Shane; SHIN, Helen T et al.Pediatric dermatology. 2005, Vol 22, Num 4, pp 334-337, issn 0736-8046, 4 p.Article

Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathySACHDEV, B; TAKENAKA, T; TERAGUCHI, H et al.Circulation (New York, N.Y.). 2002, Vol 105, Num 12, pp 1407-1411, issn 0009-7322Article

The anesthetic management of a patient with Fabry's diseaseWATANABE, H; AOKI, T; ONO, A et al.Masui. 1995, Vol 44, Num 9, pp 1258-1260, issn 0021-4892Article

Electrophysiologic findings in Fabry's disease with a short PR intervalPOCHIS, W. T; LITZOW, J. T; KING, B. G et al.The American journal of cardiology. 1994, Vol 74, Num 2, pp 203-204, issn 0002-9149Article

Ischemic optic neuropathy in a female carrier with Fabry's diseaseABE, H; SAKAI, T; SAWAGUCHI, S et al.Ophthalmologica (Basel). 1992, Vol 205, Num 2, pp 83-88, issn 0030-3755Article

Fabry disease : classic hemizygote and residual alpha-galactosidase A activityPRAVATA, G; NOTO, G; ARICO, M et al.International journal of dermatology. 1991, Vol 30, Num 5, pp 367-369, issn 0011-9059Article

Combined atrioventricular block and sinus node dysfunction in Fabry's diseaseSUZUKI, M; GOTO, T; KATO, R et al.The American heart journal. 1990, Vol 120, Num 2, pp 438-440, issn 0002-8703, 3 p.Article

Anderson-fabry disease (angiokeratoma corporis diffusum universale)RADCLIFFE, K. W; EVANS, B. A.Genitourinary medicine. 1990, Vol 66, Num 5, pp 399-400, issn 0266-4348, 2 p.Article

Demonstration of Fabry's disease deposits in placentaPOPLI, S; LEEHEY, D. J; MOLNAR, Z. F et al.American journal of obstetrics and gynecology. 1990, Vol 162, Num 2, pp 464-465, issn 0002-9378, 2 p.Article

A Fabry's disease heterozygote with a new mutation : biochemical, ultrastructural, and clinical investigationsHASHOLT, L; SORENSEN, S. A; WANDALL, A et al.Journal of medical genetics. 1990, Vol 27, Num 5, pp 303-306, issn 0022-2593Article

Fabry disease: isolation of a cDNA clone encoding human α-galactosidase ACALHOUN, D. H; BISHOP, D. F; BERNSTEIN, H. S et al.Proceedings of the National Academy of Sciences of the United States of America. 1985, Vol 82, Num 21, pp 7364-7368, issn 0027-8424Article

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