Kathy Nicholls Selected Research

globotriaosylceramide (globotriosylceramide)

1/2019	Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study.
1/2017	A simple method for quantification of plasma globotriaosylsphingosine: Utility for Fabry disease.
1/2017	Sleep Disturbance, Obstructive Sleep Apnoea and Abnormal Periodic Leg Movements: Very Common Problems in Fabry Disease.
12/2013	Changes in plasma and urine globotriaosylceramide levels do not predict Fabry disease progression over 1 year of agalsidase alfa.
1/2013	Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients.
11/2012	Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies.

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Kathy Nicholls Research Topics

Disease

22	Fabry Disease (Fabry's Disease) 12/2021 - 01/2005
4	Proteinuria 02/2014 - 05/2009
3	Chronic Kidney Failure (Chronic Renal Failure) 05/2009 - 03/2006
2	Lysosomal Storage Diseases (Lysosomal Storage Disease) 01/2019 - 01/2017
2	Inborn Genetic Diseases (Disease, Hereditary) 11/2012 - 03/2011
2	Pain (Aches) 01/2012 - 11/2010
1	Diarrhea 01/2019
1	Atrophy 05/2017
1	Retinal Perforations 05/2017
1	Hereditary Nephritis (Alport Syndrome) 05/2017
1	Macular Degeneration (Age-Related Maculopathy) 05/2017
1	Cerebrovascular Disorders (Cerebrovascular Occlusion) 01/2017
1	Cardiomyopathies (Cardiomyopathy) 01/2017
1	Sphingolipidoses (Sphingolipidosis) 01/2017
1	Nephrotic Syndrome (Syndrome, Nephrotic) 07/2015
1	Herpes Zoster 02/2014
1	Lupus Nephritis 02/2014
1	Gastroenteritis 02/2014
1	Infections 02/2014
1	Osteoporosis 01/2014
1	Left Ventricular Hypertrophy (Ventricular Hypertrophy, Left) 12/2013
1	Chronic Renal Insufficiency 12/2013
1	Renal Insufficiency (Renal Failure) 07/2013
1	Uremia 07/2013
1	Hypertension (High Blood Pressure) 07/2013
1	Albuminuria 10/2011
1	Heart Failure 03/2011
1	Myocardial Infarction 03/2011
1	Neuralgia (Stump Neuralgia) 11/2010
1	Atherosclerosis 03/2006
1	Atherosclerotic Plaque (Atheroma) 03/2006
1	Death (Near-Death Experience) 07/2005

Drug/Important Bio-Agent (IBA)

11	GalactosidasesIBA 01/2019 - 11/2010
6	globotriaosylceramide (globotriosylceramide)IBA 01/2019 - 11/2012
5	agalsidase alfaIBA 01/2015 - 05/2009
4	migalastatIBA 12/2021 - 01/2015
4	EnzymesIBA 01/2013 - 05/2009
3	GlycosphingolipidsIBA 07/2013 - 04/2005
3	alpha-Galactosidase (Beano)IBA 03/2011 - 01/2005
2	agalsidase beta FDA Link 01/2015 - 01/2012
2	Proteins (Proteins, Gene)FDA Link 02/2014 - 01/2012
2	CreatinineIBA 02/2014 - 10/2011
1	SphingolipidsIBA 01/2019
1	Mydriatics (Cycloplegics)IBA 05/2017
1	Retinaldehyde (Retinal)IBA 05/2017
1	globotriaosyl lysosphingolipidIBA 01/2017
1	HydrolasesIBA 01/2017
1	HLA-DQA1 antigen (HLA DQA1)IBA 07/2015
1	Mycophenolic Acid (Cellcept)FDA LinkGeneric 02/2014
1	GlucocorticoidsIBA 02/2014
1	Biological ProductsIBA 02/2014
1	Abatacept (Orencia)FDA Link 02/2014
1	Anticonvulsants (Antiepileptic Drugs)IBA 01/2014
1	Biomarkers (Surrogate Marker)IBA 12/2013
1	AlbuminsIBA 10/2011
1	2'- deoxythymidylyl- (3'- 5')- 2'- deoxyadenosine (d(AT))IBA 05/2009
1	Folic Acid (Vitamin M)FDA LinkGeneric 03/2006

Therapy/Procedure

9	Enzyme Replacement Therapy 09/2021 - 05/2009
2	Therapeutics 01/2015 - 03/2011
2	Kidney Transplantation 07/2013 - 05/2006
1	Drug Tapering 01/2012
1	Renal Dialysis (Hemodialysis) 07/2005
1	Palliative Care (Palliative Therapy) 07/2005
1	Slit Lamp 04/2005