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Robert J Desnick Selected Research

Hepatic Porphyrias (Hepatic Porphyria)

11/2019Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes.
11/2019International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias.
11/2019Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations.
10/2017Acute hepatic porphyrias: Recommendations for evaluation and long-term management.
11/2016Experiences and concerns of patients with recurrent attacks of acute hepatic porphyria: A qualitative study.
11/2015Preclinical Development of a Subcutaneous ALAS1 RNAi Therapeutic for Treatment of Hepatic Porphyrias Using Circulating RNA Quantification.
5/2014RNAi-mediated silencing of hepatic Alas1 effectively prevents and treats the induced acute attacks in acute intermittent porphyria mice.
11/2012The porphyrias: advances in diagnosis and treatment.
1/2012The porphyrias: advances in diagnosis and treatment.
1/2010AAV8-mediated gene therapy prevents induced biochemical attacks of acute intermittent porphyria and improves neuromotor function.

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Robert J Desnick Research Topics

Disease

56Fabry Disease (Fabry's Disease)
11/2021 - 04/2002
20Acute Intermittent Porphyria (Porphyria, Acute)
01/2020 - 11/2004
15Porphyrias (Porphyria)
01/2022 - 11/2004
14Lysosomal Storage Diseases (Lysosomal Storage Disease)
01/2018 - 05/2002
12Erythropoietic Porphyria (Congenital Erythropoietic Porphyria)
11/2019 - 06/2002
10Hepatic Porphyrias (Hepatic Porphyria)
11/2019 - 01/2010
9Erythropoietic Protoporphyria
01/2022 - 01/2012
7Porphyria Cutanea Tarda
11/2019 - 03/2011
6Niemann-Pick Diseases (Niemann Pick Disease)
01/2017 - 07/2004
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
4Hereditary Coproporphyria (Coproporphyrinogen Oxidase Deficiency)
11/2019 - 02/2011
4Chronic Kidney Failure (Chronic Renal Failure)
11/2018 - 12/2002
4Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy)
01/2018 - 01/2006
4Renal Insufficiency (Renal Failure)
05/2015 - 12/2002
4Gaucher Disease (Gaucher's Disease)
06/2011 - 02/2004
3Hemochromatosis (Bronze Diabetes)
11/2019 - 03/2011
3Variegate Porphyria (Protoporphyrinogen Oxidase Deficiency)
11/2019 - 11/2019
3Pain (Aches)
07/2015 - 03/2005
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
2Chronic Pain
10/2020 - 11/2016
2Hepatoerythropoietic Porphyria
11/2019 - 05/2010
2Hyperplasia
11/2019 - 06/2015
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
1Rare Diseases (Rare Disease)
01/2022
1Myeloproliferative Disorders (Myeloproliferative Disorder)
12/2020
1Polycythemia Vera
12/2020
1Disease Progression
12/2020
1Mental Disorders (Mental Disorder)
11/2020
1Osteolysis
11/2019
1Superinfection
11/2019
1Infections
11/2019

Drug/Important Bio-Agent (IBA)

31alpha-Galactosidase (Beano)IBA
09/2020 - 04/2002
28Heme (Haem)IBA
01/2022 - 06/2002
25EnzymesIBA
11/2021 - 04/2002
22GlycosphingolipidsIBA
01/2018 - 04/2002
19GalactosidasesIBA
11/2021 - 11/2010
14globotriaosylceramide (globotriosylceramide)IBA
11/2021 - 06/2002
12Hydroxymethylbilane Synthase (Porphobilinogen Deaminase)IBA
01/2020 - 11/2004
9AcidsIBA
12/2020 - 09/2005
8PorphyrinsIBA
01/2022 - 11/2004
7Uroporphyrinogen III Synthetase (Uroporphyrinogen-III Synthase)IBA
11/2019 - 06/2002
7neodymium pyrocatechin disulfonate (NPD)IBA
01/2017 - 12/2002
6agalsidase betaFDA Link
04/2021 - 08/2005
6Hemin (Panhematin)FDA Link
12/2020 - 03/2005
6LipidsIBA
01/2017 - 01/2004
5Acute Hepatic PorphyriaIBA
01/2022 - 02/2010
5DNA (Deoxyribonucleic Acid)IBA
12/2020 - 02/2010
4Proteins (Proteins, Gene)FDA Link
01/2022 - 12/2002
4Adenosine Diphosphate (ADP)IBA
12/2020 - 11/2019
4HydrolasesIBA
09/2020 - 06/2002
4IronIBA
11/2019 - 06/2015
4Uroporphyrinogen Decarboxylase (Uroporphyrinogen III Decarboxylase)IBA
11/2019 - 05/2010
4GlycolipidsIBA
04/2015 - 01/2004
4Nonsense Codon (Nonsense Mutation)IBA
12/2011 - 08/2010
3Hydro-Lyases (Dehydratases)IBA
12/2020 - 11/2019
3Coproporphyrinogen Oxidase (Coproporphyrinogen III Oxidases)IBA
11/2019 - 02/2011
3protoporphyrin IXIBA
01/2018 - 04/2013
35-Aminolevulinate SynthetaseIBA
04/2013 - 01/2012
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
2PorphobilinogenIBA
01/2019 - 08/2011
2GadoliniumIBA
08/2017 - 12/2016
2migalastatIBA
01/2017 - 01/2010
2Biomarkers (Surrogate Marker)IBA
01/2017 - 09/2007
2globotriaosyl lysosphingolipidIBA
01/2017 - 01/2017
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
1PorphyrinogensIBA
01/2022
1Antidepressive Agents (Antidepressants)IBA
11/2020
1Anti-Bacterial Agents (Antibiotics)IBA
11/2019
1Isoniazid (Ftivazide)FDA LinkGeneric
11/2019
1Porphobilinogen Synthase (delta-Aminolevulinate Dehydratase)IBA
11/2019

Therapy/Procedure

22Enzyme Replacement Therapy
09/2020 - 12/2002
17Therapeutics
11/2021 - 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
1Bone Marrow Transplantation (Transplantation, Bone Marrow)
11/2019