Gerald F Cox Selected Research

Choroidal sclerosis

1/2017

Progressive retinal degeneration in a girl with Knobloch syndrome who presented with signs of ocular albinism.

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Gerald F Cox Research Topics

Disease

8	Mucopolysaccharidosis I (Hurler Syndrome) 03/2017 - 05/2004
7	Niemann-Pick Diseases (Niemann Pick Disease) 01/2018 - 08/2012
6	Gaucher Disease (Gaucher's Disease) 09/2020 - 01/2017
5	Cardiomyopathies (Cardiomyopathy) 08/2011 - 10/2006
4	Heart Failure 02/2017 - 10/2006
4	Type B Niemann-Pick Disease 01/2016 - 08/2008
4	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 07/2014 - 10/2006
3	Hypersensitivity (Allergy) 03/2017 - 09/2015
3	Hepatomegaly 01/2016 - 05/2004
2	Pain (Aches) 01/2018 - 01/2016
2	Nausea 01/2018 - 01/2016
2	Fever (Fevers) 01/2016 - 01/2009
2	Vomiting 01/2016 - 01/2009
2	Glycogen Storage Disease (Glycogenosis) 01/2007 - 06/2005
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2020
1	GM2 Gangliosidoses (GM2 Gangliosidosis) 01/2020
1	Flatulence 01/2018
1	Hyperphosphatemia 01/2018
1	Chronic Renal Insufficiency 01/2018
1	Back Pain (Backache) 01/2018
1	Arthralgia (Joint Pain) 01/2018
1	Diarrhea 01/2018
1	Lysosomal Storage Diseases (Lysosomal Storage Disease) 01/2018
1	Fatigue 01/2018
1	Abdominal Pain (Pain, Abdominal) 01/2018
1	Headache (Headaches) 01/2018
1	Thrombocytopenia (Thrombopenia) 01/2017
1	Atrophy 01/2017
1	Anemia 01/2017
1	Albinism 01/2017
1	Oculocutaneous albinism type 1 01/2017
1	Knobloch syndrome 01/2017
1	Choroidal sclerosis 01/2017
1	Drug-Related Side Effects and Adverse Reactions 01/2016
1	Acute-Phase Reaction 01/2016
1	Fibrosis (Cirrhosis) 01/2016
1	Inflammation (Inflammations) 01/2016
1	Neurologic Manifestations (Neurological Manifestations) 01/2016
1	Disease Progression 01/2016
1	Type A Niemann-Pick Disease 01/2016
1	Intellectual Disability (Idiocy) 10/2015
1	Lung Diseases (Lung Disease) 09/2015
1	Distal Myopathies (Distal Muscular Dystrophy) 07/2014
1	Myosin Storage Myopathy 07/2014
1	Inborn Errors Metabolism (Inborn Errors of Metabolism) 12/2013
1	Restrictive Cardiomyopathy 12/2013
1	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 12/2013
1	Rare Diseases (Rare Disease) 08/2012
1	Heart Diseases (Heart Disease) 03/2012
1	Neuromuscular Diseases (Neuromuscular Disease) 08/2011
1	Myocarditis (Carditis) 08/2011
1	Smith-Magenis Syndrome 01/2011
1	Mucopolysaccharidosis II (Hunter Syndrome) 01/2010

Drug/Important Bio-Agent (IBA)

8	AcidsIBA 01/2018 - 08/2012
7	Sphingomyelin Phosphodiesterase (Sphingomyelinase)IBA 01/2018 - 08/2012
6	SphingomyelinsIBA 01/2018 - 08/2012
5	eliglustatIBA 09/2020 - 01/2018
5	Iduronidase (alpha-L-Iduronidase)IBA 03/2012 - 05/2004
4	EnzymesIBA 01/2020 - 06/2002
4	neodymium pyrocatechin disulfonate (NPD)IBA 01/2016 - 02/2014
3	Cytochrome P-450 CYP2D6 (CYP2D6)IBA 09/2020 - 01/2018
3	Pharmaceutical PreparationsIBA 01/2018 - 01/2009
3	GlycosaminoglycansIBA 04/2016 - 05/2004
3	Biomarkers (Surrogate Marker)IBA 04/2016 - 08/2012
3	olipudase alfaIBA 01/2016 - 09/2015
3	LipidsIBA 01/2016 - 08/2008
2	Retinaldehyde (Retinal)IBA 01/2017 - 06/2003
2	Proteins (Proteins, Gene)FDA Link 10/2015 - 01/2009
1	Cytochrome P-450 Enzyme System (Cytochrome P450)IBA 09/2020
1	ceramide glucosyltransferaseIBA 03/2020
1	Paroxetine (Paxil)FDA LinkGeneric 03/2020
1	Rifampin (Rifampicin)FDA LinkGeneric 03/2020
1	Ketoconazole (Nizoral)FDA LinkGeneric 03/2020
1	Hexosaminidase A (Hex A)IBA 01/2020
1	Hexosaminidase BIBA 01/2020
1	Phosphates (Orthophosphate)IBA 01/2018
1	Phosphorus (Red Phosphorus)IBA 01/2018
1	Sevelamer (RenaGel)FDA Link 01/2018
1	Hemoglobins (Hemoglobin)IBA 01/2017
1	GlucosidasesIBA 01/2017
1	imiglucerase FDA Link 01/2017
1	Monophenol Monooxygenase (Tyrosinase)IBA 01/2017
1	C-Reactive ProteinIBA 01/2016
1	Calcitonin (Calcitonin, Eel)FDA LinkGeneric 01/2016
1	Interleukin-8 (Interleukin 8)IBA 01/2016
1	Transcription Factors (Transcription Factor)IBA 10/2015
1	RNA Polymerase II (RNA Polymerase B)IBA 10/2015
1	DNA (Deoxyribonucleic Acid)IBA 10/2015
1	Mediator ComplexIBA 10/2015
1	AntibodiesIBA 09/2015
1	chitotriosidaseIBA 09/2015
1	Cardiac MyosinsIBA 07/2014
1	Anesthetics (Anesthetic Agents)IBA 03/2012
1	Tretinoin (Retinoic Acid)FDA LinkGeneric 01/2011
1	idursulfase FDA Link 01/2010

Therapy/Procedure

11	Enzyme Replacement Therapy 03/2017 - 05/2004
6	Therapeutics 03/2020 - 01/2007
6	Heart Transplantation (Grafting, Heart) 02/2017 - 10/2006
4	Transplantation 02/2017 - 10/2006
1	Hematopoietic Stem Cell Transplantation 03/2017