Búsqueda | Biblioteca Virtual en Salud

1.

[Ehlers-Danlos syndromes]. / Les syndromes d'Ehlers-Danlos.

Germain, D-P.

Ann Dermatol Venereol ; 144(12): 744-758, 2017 Dec.

Artículo en Francés | MEDLINE | ID: mdl-29032848

2.

X-chromosome inactivation in female patients with Fabry disease.

Echevarria, L; Benistan, K; Toussaint, A; Dubourg, O; Hagege, A A; Eladari, D; Jabbour, F; Beldjord, C; De Mazancourt, P; Germain, D P.

Clin Genet ; 89(1): 44-54, 2016 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-25974833

3.

A Phase 2 study of migalastat hydrochloride in females with Fabry disease: selection of population, safety and pharmacodynamic effects.

Giugliani, R; Waldek, S; Germain, D P; Nicholls, K; Bichet, D G; Simosky, J K; Bragat, A C; Castelli, J P; Benjamin, E R; Boudes, P F.

Mol Genet Metab ; 109(1): 86-92, 2013 May.

Artículo en Inglés | MEDLINE | ID: mdl-23474038

4.

Screening for Fabry disease in male patients with end-stage renal disease in western France.

Vigneau, C; Germain, D P; Larmet, D; Jabbour, F; Hourmant, M.

Nephrol Ther ; 17(3): 180-184, 2021 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-33994139

5.

Pharmacological chaperone therapy by active-site-specific chaperones in Fabry disease: in vitro and preclinical studies.

Germain, D P; Fan, J-Q.

Int J Clin Pharmacol Ther ; 47 Suppl 1: S111-7, 2009.

Artículo en Inglés | MEDLINE | ID: mdl-20040321

6.

[Niemann-Pick disease type B identified following an episode of bronchopneumonia]. / Maladie de Niemann-Pick de type B révélée par une atteinte bronchopulmonaire.

Hervé, A; Marchand-Adam, S; Fabre, A; Debray, M-P; Germain, D-P; Crestani, B; Aubier, M.

Rev Mal Respir ; 25(7): 861-6, 2008 Sep.

Artículo en Francés | MEDLINE | ID: mdl-18946413

7.

Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry.

Eng, C M; Fletcher, J; Wilcox, W R; Waldek, S; Scott, C R; Sillence, D O; Breunig, F; Charrow, J; Germain, D P; Nicholls, K; Banikazemi, M.

J Inherit Metab Dis ; 30(2): 184-92, 2007 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-17347915

8.

Natural history of the respiratory involvement in Anderson-Fabry disease.

Magage, S; Lubanda, J-C; Susa, Z; Bultas, J; Karetová, D; Dobrovolný, R; Hrebícek, M; Germain, D P; Linhart, A.

J Inherit Metab Dis ; 30(5): 790-9, 2007 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-17619837

9.

[Prenatal diagnosis of Gaucher disease]. / Le diagnostic prénatal de la maladie de Gaucher.

Germain, D P; Benistan, K.

Rev Med Interne ; 28 Suppl 2: S193-7, 2007 Oct.

Artículo en Francés | MEDLINE | ID: mdl-18240370

10.

[Therapeutic objectives in Gaucher disease]. / Buts thérapeutiques dans la maladie de Gaucher.

Mistry, P; Germain, D P.

Rev Med Interne ; 28 Suppl 2: S171-5, 2007 Oct.

Artículo en Francés | MEDLINE | ID: mdl-18228683

11.

Basilar Artery Changes in Fabry Disease.

Manara, R; Carlier, R Y; Righetto, S; Citton, V; Locatelli, G; Colas, F; Ermani, M; Germain, D P; Burlina, A.

AJNR Am J Neuroradiol ; 38(3): 531-536, 2017 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-28126747

12.

Liquid chromatography on porous graphitic carbon with atmospheric pressure photoionization mass spectrometry and tandem mass spectrometry for the analysis of glycosphingolipids.

Roy, S; Delobel, A; Gaudin, K; Touboul, D; Germain, D P; Baillet, A; Prognon, P; Laprévote, O; Chaminade, P.

J Chromatogr A ; 1117(2): 154-62, 2006 Jun 09.

Artículo en Inglés | MEDLINE | ID: mdl-16620865

13.

[Neurological aspects of Fabry's disease]. / Manifestations neurologiques de la maladie de Fabry.

Clavelou, P; Besson, G; Elziere, C; Ferrier, A; Pinard, J-M; Hermier, M; Artigou, J Y; Germain, D P.

Rev Neurol (Paris) ; 162(5): 569-80, 2006 May.

Artículo en Francés | MEDLINE | ID: mdl-16710123

14.

Phenotype variations in Gaucher disease.

Mistry, P; Germain, D P.

Rev Med Interne ; 27 Suppl 1: S3-10, 2006 Mar.

Artículo en Inglés, Francés | MEDLINE | ID: mdl-16644399

15.

Therapeutic goals in Gaucher disease.

Mistry, P; Germain, D P.

Rev Med Interne ; 27 Suppl 1: S30-8, 2006 Mar.

Artículo en Inglés, Francés | MEDLINE | ID: mdl-16644400

16.

[The cochlea in Fabry disease: a sensorineural hearing loss model of vascular origin?]. / La maladie de Fabry: l'atteinte vasculaire multi-organe pourrait également intéresser la cochlée.

Malinvaud, D; Avan, P; Germain, D P; Benistan, K; Bonfils, P.

Rev Med Interne ; 27(7): 527-31, 2006 Jul.

Artículo en Francés | MEDLINE | ID: mdl-16413636

17.

[Imaging mass spectrometry: a new tool for the analysis of skin biopsy. Application in Fabry's disease]. / Imagerie par spectrométrie de masse: un nouvel outil pour l'analyse de biopsies cutanées. Application à la maladie de Fabry.

Roy, S; Touboul, D; Brunelle, A; Germain, D-P; Prognon, P; Laprévote, O; Chaminade, P.

Ann Pharm Fr ; 64(5): 328-34, 2006 Sep.

Artículo en Francés | MEDLINE | ID: mdl-17095952

18.

Identification of novel polymorphisms in the pM5 and MRP1 (ABCC1) genes at locus 16p13.1 and exclusion of both genes as responsible for pseudoxanthoma elasticum.

Perdu, J; Germain, D P.

Hum Mutat ; 17(1): 74-5, 2001.

Artículo en Inglés | MEDLINE | ID: mdl-11139250

19.

Optimisation of the separation of four major neutral glycosphingolipids: application to a rapid and simple detection of urinary globotriaosylceramide in Fabry disease.

Roy, S; Gaudin, K; Germain, D P; Baillet, A; Prognon, P; Chaminade, P.

J Chromatogr B Analyt Technol Biomed Life Sci ; 805(2): 331-7, 2004 Jun 15.

Artículo en Inglés | MEDLINE | ID: mdl-15135109

20.

Mutation analysis of the acid beta-glucosidase gene in a patient with type 3 Gaucher disease and neutralizing antibody to alglucerase.

Germain, D P; Kaneski, C R; Brady, R O.

Mutat Res ; 483(1-2): 89-94, 2001 Nov 01.

Artículo en Inglés | MEDLINE | ID: mdl-11600137

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[Ehlers-Danlos syndromes]. / Les syndromes d'Ehlers-Danlos.

X-chromosome inactivation in female patients with Fabry disease.

A Phase 2 study of migalastat hydrochloride in females with Fabry disease: selection of population, safety and pharmacodynamic effects.

Screening for Fabry disease in male patients with end-stage renal disease in western France.

Pharmacological chaperone therapy by active-site-specific chaperones in Fabry disease: in vitro and preclinical studies.

[Niemann-Pick disease type B identified following an episode of bronchopneumonia]. / Maladie de Niemann-Pick de type B révélée par une atteinte bronchopulmonaire.

Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry.

Natural history of the respiratory involvement in Anderson-Fabry disease.

[Prenatal diagnosis of Gaucher disease]. / Le diagnostic prénatal de la maladie de Gaucher.

[Therapeutic objectives in Gaucher disease]. / Buts thérapeutiques dans la maladie de Gaucher.

Basilar Artery Changes in Fabry Disease.

Liquid chromatography on porous graphitic carbon with atmospheric pressure photoionization mass spectrometry and tandem mass spectrometry for the analysis of glycosphingolipids.

[Neurological aspects of Fabry's disease]. / Manifestations neurologiques de la maladie de Fabry.

Phenotype variations in Gaucher disease.

Therapeutic goals in Gaucher disease.

[The cochlea in Fabry disease: a sensorineural hearing loss model of vascular origin?]. / La maladie de Fabry: l'atteinte vasculaire multi-organe pourrait également intéresser la cochlée.

[Imaging mass spectrometry: a new tool for the analysis of skin biopsy. Application in Fabry's disease]. / Imagerie par spectrométrie de masse: un nouvel outil pour l'analyse de biopsies cutanées. Application à la maladie de Fabry.

Identification of novel polymorphisms in the pM5 and MRP1 (ABCC1) genes at locus 16p13.1 and exclusion of both genes as responsible for pseudoxanthoma elasticum.

Optimisation of the separation of four major neutral glycosphingolipids: application to a rapid and simple detection of urinary globotriaosylceramide in Fabry disease.

Mutation analysis of the acid beta-glucosidase gene in a patient with type 3 Gaucher disease and neutralizing antibody to alglucerase.