Brigitte Rigat
Groupe Hospitalier du Havre(FR)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Glycosylation and Glycoproteins Research, Carbohydrate Chemistry and Synthesis, Cellular transport and secretion, Renin-Angiotensin System Studies
Most-Cited Works
- → An insertion/deletion polymorphism in the angiotensin I-converting enzyme gene accounting for half the variance of serum enzyme levels.(1990)3,795 cited
- → PCR detection of the insertion/deletion polymorphism of the human angiotensin converting enzyme gene (DCP1) (dipeptidyl carboxypeptidase 1)(1992)1,252 cited
- Evidence, from combined segregation and linkage analysis, that a variant of the angiotensin I-converting enzyme (ACE) gene controls plasma ACE levels.(1992)
- → Identification and Characterization of Ambroxol as an Enzyme Enhancement Agent for Gaucher Disease(2009)330 cited
- → The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of β‐glucosidase(2010)158 cited
- → An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay–Sachs or Sandhoff variants)(2010)125 cited
- → Sib pair linkage analysis of renin gene haplotypes in human essential hypertension(1992)118 cited
- → Similar frequencies of renin gene restriction fragment length polymorphisms in hypertensive and normotensive subjects.(1990)91 cited
- PCR DETECTION OF THE INSERTION/ DELETION POLYMORPHISM OF THE HUMAN ANGIOTENSIN CONVERTING ENZYME GENE(1992)
- → Identification of Pharmacological Chaperones for Gaucher Disease and Characterization of Their Effects on β‐Glucocerebrosidase by Hydrogen/Deuterium Exchange Mass Spectrometry(2008)74 cited