R J Desnick Selected Research

Enzymes

8/2018	Many pitfalls in diagnosis of acute intermittent porphyria: a case report.
1/2012	Enzyme replacement therapy for lysosomal diseases: lessons from 20 years of experience and remaining challenges.
3/2006	Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients.
1/2005	Mucopolysaccharidosis I: Alpha-L-Iduronidase mutations in three Tunisian families.
1/2004	Enzyme replacement and enhancement therapies for lysosomal diseases.
1/2002	Enzyme replacement therapy for Fabry disease, an inherited nephropathy.
4/2001	Enzyme replacement and beyond.
3/2001	A phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studies.
1/2001	Fabry disease: preclinical studies demonstrate the effectiveness of alpha-galactosidase A replacement in enzyme-deficient mice.
12/2000	Human uroporphyrinogen-III synthase: genomic organization, alternative promoters, and erythroid-specific expression.

For more, sign up at right for free...

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.

Realize the full power of the drug-disease research graph!

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