R J Desnick Selected Research

R J Desnick Research Topics

Disease

12	Fabry Disease (Fabry's Disease) 06/2009 - 07/2000
6	Lysosomal Storage Diseases (Lysosomal Storage Disease) 01/2012 - 02/2000
5	Erythropoietic Porphyria (Congenital Erythropoietic Porphyria) 01/2016 - 01/2000
4	Gaucher Disease (Gaucher's Disease) 01/2004 - 02/2000
2	Pain (Aches) 01/2021 - 01/2001
2	Porphyrias (Porphyria) 06/2019 - 08/2001
2	Acute Intermittent Porphyria (Porphyria, Acute) 08/2018 - 09/2000
2	Mucopolysaccharidosis I (Hurler Syndrome) 01/2005 - 01/2004
2	Niemann-Pick Diseases (Niemann Pick Disease) 01/2003 - 10/2000
1	Jaundice (Icterus) 06/2019
1	Neonatal Anemia 06/2019
1	Harderoporphyria 06/2019
1	Sinus Tachycardia 08/2018
1	Appendicitis 08/2018
1	Intestinal Obstruction (Obstruction, Intestinal) 08/2018
1	Interstitial Nephritis (Tubulointerstitial Nephritis) 08/2018
1	Kidney Calculi (Kidney Stone) 08/2018
1	Coronary Artery Disease (Coronary Atherosclerosis) 01/2016
1	Breast Neoplasms (Breast Cancer) 10/2011
1	Mucopolysaccharidosis IV (Morquio Syndrome) 03/2006
1	Type A Niemann-Pick Disease 01/2006
1	Glycogen Storage Disease Type II (Pompe's Disease) 01/2004
1	Portal Hypertension 01/2003
1	Graft vs Host Disease (Graft-Versus-Host Disease) 01/2003
1	Liver Cirrhosis (Hepatic Cirrhosis) 01/2003
1	Hajdu-Cheney Syndrome (Multicentric Osteolysis) 07/2001
1	Arthritis (Polyarthritis) 07/2001
1	Deafness (Deaf Mutism) 06/2001
1	Fever (Fevers) 01/2001
1	Acute Erythroblastic Leukemia (Erythroleukemia) 01/2000

Drug/Important Bio-Agent (IBA)

12	EnzymesIBA 08/2018 - 01/2000
8	alpha-Galactosidase (Beano)IBA 06/2009 - 07/2000
6	GlycosphingolipidsIBA 06/2009 - 07/2000
4	globotriaosylceramide (globotriosylceramide)IBA 06/2009 - 01/2001
4	Heme (Haem)IBA 03/2001 - 01/2000
3	Pharmaceutical PreparationsIBA 08/2018 - 04/2001
3	neodymium pyrocatechin disulfonate (NPD)IBA 01/2006 - 10/2000
2	Hydroxymethylbilane Synthase (Porphobilinogen Deaminase)IBA 08/2018 - 09/2000
2	DNA (Deoxyribonucleic Acid)IBA 08/2018 - 07/2000
2	Uroporphyrinogen III Synthetase (Uroporphyrinogen-III Synthase)IBA 03/2001 - 01/2000
2	Glucosylceramidase (Glucocerebrosidase)IBA 06/2000 - 02/2000
1	afamelanotideIBA 01/2021
1	Coproporphyrinogen Oxidase (Coproporphyrinogen III Oxidases)IBA 06/2019
1	harderoporphyrinIBA 06/2019
1	PorphyrinsIBA 06/2019
1	Cytochrome P-450 CYP2C19IBA 01/2016
1	protoporphyrin IXIBA 01/2016
1	Clopidogrel (Plavix)FDA Link 01/2016
1	Estrogen ReceptorsIBA 10/2011
1	4-hydroxy-N-desmethyltamoxifenIBA 10/2011
1	Tamoxifen FDA LinkGeneric 10/2011
1	Cytochrome P-450 Enzyme System (Cytochrome P450)IBA 10/2011
1	Cytochrome P-450 CYP2D6 (CYP2D6)IBA 10/2011
1	GlycosaminoglycansIBA 03/2006
1	Iduronidase (alpha-L-Iduronidase)IBA 01/2005
1	dimemorfan (AT 17)IBA 01/2003
1	Galactose (Galactopyranose)FDA LinkGeneric 07/2001
1	Matrix Metalloproteinase 2 (Gelatinase A)IBA 07/2001
1	Connexin 26IBA 06/2001
1	Immunoglobulin G (IgG)IBA 03/2001
1	AntibodiesIBA 03/2001
1	agalsidase alfaIBA 01/2001
1	UroporphyrinogensIBA 12/2000
1	Sphingomyelin Phosphodiesterase (Sphingomyelinase)IBA 10/2000
1	AcidsIBA 10/2000
1	Glycoside Hydrolases (Endoglycosidases)IBA 07/2000
1	LuciferasesIBA 01/2000

Therapy/Procedure

7	Enzyme Replacement Therapy 01/2004 - 01/2001
3	Therapeutics 07/2001 - 01/2001
2	Bone Marrow Transplantation (Transplantation, Bone Marrow) 01/2003 - 08/2001
1	Transplantation 01/2003