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Robert J Desnick Selected Research

Infections

11/2019Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations.

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Robert J Desnick Research Topics

Disease

57Fabry Disease (Fabry's Disease)
03/2024 - 04/2002
23Acute Intermittent Porphyria (Porphyria, Acute)
12/2023 - 11/2004
15Porphyrias (Porphyria)
01/2022 - 11/2004
14Lysosomal Storage Diseases (Lysosomal Storage Disease)
01/2018 - 05/2002
13Erythropoietic Porphyria (Congenital Erythropoietic Porphyria)
05/2024 - 06/2002
12Erythropoietic Protoporphyria
12/2023 - 01/2012
10Hepatic Porphyrias (Hepatic Porphyria)
11/2019 - 01/2010
7Porphyria Cutanea Tarda
11/2019 - 03/2011
6Niemann-Pick Diseases (Niemann Pick Disease)
01/2017 - 07/2004
5Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy)
03/2024 - 01/2006
5Cerebrovascular Disorders (Cerebrovascular Occlusion)
11/2021 - 08/2005
5Inborn Genetic Diseases (Disease, Hereditary)
12/2020 - 07/2004
5Type B Niemann-Pick Disease
08/2008 - 12/2002
4Pain (Aches)
01/2022 - 03/2005
4Hereditary Coproporphyria (Coproporphyrinogen Oxidase Deficiency)
11/2019 - 02/2011
4Chronic Kidney Failure (Chronic Renal Failure)
11/2018 - 12/2002
4Renal Insufficiency (Renal Failure)
05/2015 - 12/2002
4Gaucher Disease (Gaucher's Disease)
06/2011 - 02/2004
3Chronic Pain
01/2022 - 11/2016
3Variegate Porphyria (Protoporphyrinogen Oxidase Deficiency)
11/2019 - 11/2019
3Hemochromatosis (Bronze Diabetes)
11/2019 - 03/2011
3Liver Diseases (Liver Disease)
04/2013 - 12/2004
3Focal Facial Dermal Dysplasias
10/2011 - 08/2010
3Peripheral Nervous System Diseases (PNS Diseases)
03/2007 - 10/2006
2Anemia
12/2022 - 04/2006
2Abdominal Pain (Pain, Abdominal)
01/2022 - 08/2005
2Hyponatremia
01/2022 - 03/2005
2Neuralgia (Stump Neuralgia)
01/2022 - 03/2006
2Hyperplasia
11/2019 - 06/2015
2Hepatoerythropoietic Porphyria
11/2019 - 05/2010
2Hemolytic Anemia
11/2019 - 04/2006
2Stroke (Strokes)
01/2018 - 05/2015
2Left Ventricular Hypertrophy (Ventricular Hypertrophy, Left)
08/2017 - 12/2016
2Cholesterol Ester Storage Disease
09/2013 - 06/2013
2Liver Failure
08/2013 - 06/2013
2Iron Overload
11/2012 - 01/2012
2Tay-Sachs Disease
12/2011 - 09/2011
2Cicatrix (Scar)
10/2011 - 08/2010
2Proteinuria
01/2007 - 01/2004
1Phototoxic Dermatitis (Phototoxicity)
04/2023
1Brain Diseases (Brain Disorder)
01/2022
1Rare Diseases (Rare Disease)
01/2022

Drug/Important Bio-Agent (IBA)

31Heme (Haem)IBA
05/2024 - 06/2002
31alpha-Galactosidase (Beano)IBA
09/2020 - 04/2002
26EnzymesIBA
05/2024 - 04/2002
22GlycosphingolipidsIBA
01/2018 - 04/2002
19GalactosidasesIBA
11/2021 - 11/2010
14Hydroxymethylbilane Synthase (Porphobilinogen Deaminase)IBA
10/2023 - 11/2004
14globotriaosylceramide (globotriosylceramide)IBA
11/2021 - 06/2002
11AcidsIBA
12/2023 - 09/2005
9PorphyrinsIBA
12/2023 - 11/2004
8Uroporphyrinogen III Synthetase (Uroporphyrinogen-III Synthase)IBA
05/2024 - 06/2002
7Hemin (Panhematin)FDA Link
01/2022 - 03/2005
7neodymium pyrocatechin disulfonate (NPD)IBA
01/2017 - 12/2002
6agalsidase betaFDA Link
04/2021 - 08/2005
6LipidsIBA
01/2017 - 01/2004
5GlycolipidsIBA
03/2024 - 01/2004
5IronIBA
12/2022 - 06/2015
5Acute Hepatic PorphyriaIBA
01/2022 - 02/2010
5DNA (Deoxyribonucleic Acid)IBA
12/2020 - 02/2010
4protoporphyrin IXIBA
04/2023 - 04/2013
4Proteins (Proteins, Gene)FDA Link
01/2022 - 12/2002
4Adenosine Diphosphate (ADP)IBA
12/2020 - 11/2019
4HydrolasesIBA
09/2020 - 06/2002
4Uroporphyrinogen Decarboxylase (Uroporphyrinogen III Decarboxylase)IBA
11/2019 - 05/2010
4Nonsense Codon (Nonsense Mutation)IBA
12/2011 - 08/2010
3PorphobilinogenIBA
01/2022 - 08/2011
3Hydro-Lyases (Dehydratases)IBA
12/2020 - 11/2019
3Coproporphyrinogen Oxidase (Coproporphyrinogen III Oxidases)IBA
11/2019 - 02/2011
35-Aminolevulinate SynthetaseIBA
04/2013 - 01/2012
2MetalsIBA
04/2023 - 12/2015
2Antidepressive Agents (Antidepressants)IBA
01/2022 - 11/2020
2Aminolevulinic Acid (Levulan)FDA Link
12/2020 - 11/2019
2Small Interfering RNA (siRNA)IBA
10/2020 - 11/2015
2Protoporphyrinogen Oxidase (Protox)IBA
11/2019 - 11/2019
2Ferrochelatase (Heme Synthetase)IBA
11/2019 - 04/2013
2GadoliniumIBA
08/2017 - 12/2016
2globotriaosyl lysosphingolipidIBA
01/2017 - 01/2017
2Biomarkers (Surrogate Marker)IBA
01/2017 - 09/2007
2migalastatIBA
01/2017 - 01/2010
2ceramide glucosyltransferaseIBA
04/2015 - 11/2010
2Sterol Esterase (Hormone-Sensitive Lipase)IBA
09/2013 - 06/2013
2Peptides (Polypeptides)IBA
03/2013 - 12/2011
2Carboxy-LyasesIBA
11/2012 - 01/2012
2Hexosaminidase A (Hex A)IBA
12/2011 - 09/2011
2GlucosidasesIBA
06/2011 - 10/2010
2Glucose (Dextrose)FDA LinkGeneric
03/2005 - 07/2004
1Heme Oxygenase (Decyclizing) (Heme Oxygenase)IBA
12/2023
1IsoenzymesIBA
12/2023
1Cimetidine (Biomet)FDA LinkGeneric
12/2023
1PorphyrinogensIBA
01/2022
1givosiranIBA
01/2022

Therapy/Procedure

22Enzyme Replacement Therapy
09/2020 - 12/2002
18Therapeutics
12/2022 - 02/2003
2Kidney Transplantation
11/2018 - 12/2002
2Complementary Therapies (Alternative Medicine)
11/2016 - 10/2009
2Liver Transplantation
06/2015 - 06/2013
2Erythrocyte Transfusion
11/2012 - 01/2012
2Surgical Instruments (Clip)
10/2011 - 08/2010
2Renal Dialysis (Hemodialysis)
01/2006 - 09/2003