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Dominique P Germain Selected Research

alpha-Galactosidase (Beano)

2/2015The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies.
2/2012Long-term changes in arterial structure and function and left ventricular geometry after enzyme replacement therapy in patients affected with Fabry disease.
3/2010End-stage renal disease in patients with Fabry disease: natural history data from the Fabry Registry.
11/2008Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry.
5/2008Successful reinstitution of agalsidase beta therapy in Fabry disease patients with previous IgE-antibody or skin-test reactivity to the recombinant enzyme.
4/2008Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease.
3/2008Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease.
5/2007Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease.
9/2006Fabry disease: guidelines for the evaluation and management of multi-organ system involvement.
9/2006Chiari type I malformation in four unrelated patients affected with Fabry disease.
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Dominique P Germain Research Topics

Disease

38Fabry Disease (Fabry's Disease)
12/2015 - 01/2002
5Chronic Kidney Failure (Chronic Renal Failure)
01/2015 - 01/2002
5Ehlers-Danlos Syndrome (Syndrome, Ehlers-Danlos)
06/2012 - 05/2002
4Proteinuria
03/2012 - 03/2007
3Disease Progression
01/2015 - 01/2010
3Left Ventricular Hypertrophy (Ventricular Hypertrophy, Left)
12/2013 - 01/2011
3Pain (Aches)
01/2010 - 01/2002
2Renal Insufficiency (Renal Failure)
05/2015 - 01/2010
2Hypertrophic Cardiomyopathy (Asymmetric Septal Hypertrophy)
05/2015 - 01/2011
2Stroke (Strokes)
05/2015 - 01/2010
2Heart Failure
01/2015 - 03/2007
2Rupture
10/2010 - 01/2004
2Cardiomyopathies (Cardiomyopathy)
01/2010 - 03/2007
1Mental Retardation (Idiocy)
06/2015
1Fatigue
10/2010
1Cardiac Arrhythmias (Arrythmia)
01/2010
1Transient Ischemic Attack
01/2010
1Angiokeratoma
01/2010
1Fever (Fevers)
04/2008
1Rhinitis
04/2008
1Glycogen Storage Disease Type IIb
03/2007
1Glycogen Storage Disease Type II (Pompe's Disease)
03/2007
1Hypertrophy
03/2007
1Lysosomal Storage Diseases (Lysosomal Storage Disease)
01/2006
1Pseudoxanthoma Elasticum (Gronblad Strandberg Syndrome)
05/2003
1Lipidoses
01/2002
1Gaucher Disease (Gaucher's Disease)
01/2002

Drug/Important Bio-Agent (IBA)

17alpha-Galactosidase (Beano)IBA
02/2015 - 01/2002
11GalactosidasesIBA
12/2015 - 01/2006
9agalsidase betaFDA Link
05/2015 - 03/2007
8globotriaosylceramide (globotriosylceramide)IBA
05/2015 - 07/2005
4GlycosphingolipidsIBA
02/2012 - 07/2005
3Analgesics (Analgesic Drugs)IBA
01/2010 - 01/2002
3Collagen Type III (Type III Collagen)IBA
03/2004 - 05/2002
2CreatinineIBA
03/2012 - 03/2008
2Angiotensin-Converting Enzyme Inhibitors (ACE Inhibitors)IBA
01/2010 - 10/2002
2gabapentin (Neurontin)FDA LinkGeneric
10/2002 - 01/2002
1tetrasomy 9p Chromosome 9IBA
06/2015
1CollagenIBA
06/2012
1cyclo(Arg-Pro) (CI 4)IBA
03/2012
1Celiprolol (ST1396)IBA
10/2010
1Angiotensin Receptors (Angiotensin II Receptor)IBA
01/2010
1agalsidase alfaIBA
09/2008
1Immunoglobulin E (IgE)IBA
05/2008
1AntibodiesIBA
05/2008
1Cystatin CIBA
07/2007
1Biological Markers (Surrogate Marker)IBA
03/2007
1GlycogenIBA
03/2007
1galabiosylceramideIBA
07/2005
1Proteoglycans (Proteoglycan)IBA
05/2003
1Folic Acid (Vitamin M)FDA LinkGeneric
10/2002
1Lysosome-Associated Membrane GlycoproteinsIBA
01/2002
1HydrolasesIBA
01/2002
1Antihypertensive Agents (Antihypertensives)IBA
01/2002
1Carbamazepine (Tegretol)FDA LinkGeneric
01/2002

Therapy/Procedure

19Enzyme Replacement Therapy
05/2015 - 01/2002
4Kidney Transplantation
01/2015 - 01/2002
2Enzyme Therapy
01/2010 - 10/2002
1Intravenous Infusions
05/2008