Grant A Mitchell Selected Research

AB Variant Tay-Sachs Disease

6/2017

Atypical juvenile presentation of GM2 gangliosidosis AB in a patient compound-heterozygote for c.259G > T and c.164C > T mutations in the GM2A gene.

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Grant A Mitchell Research Topics

Disease

7	Obesity 01/2020 - 07/2005
7	Tyrosinemias (Tyrosinemia) 03/2018 - 05/2006
7	Insulin Resistance 12/2017 - 07/2005
5	Fatty Liver 01/2020 - 05/2002
4	Hypoglycemia (Reactive Hypoglycemia) 09/2019 - 07/2003
3	Brain Diseases (Brain Disorder) 03/2020 - 10/2013
3	Leigh Disease (Leigh's Disease) 01/2017 - 09/2007
3	Mitochondrial Diseases (Mitochondrial Disease) 01/2017 - 05/2007
2	Metabolic Diseases (Metabolic Disease) 01/2022 - 09/2019
2	Disease Progression 01/2022 - 09/2012
2	Ketosis 09/2019 - 03/2004
2	Cardiomyopathies (Cardiomyopathy) 09/2019 - 01/2015
2	Muscular Diseases (Myopathy) 09/2019 - 01/2015
2	Hyperammonemia 09/2019 - 01/2013
2	Lipodystrophy 12/2017 - 01/2015
2	Chorea (Rheumatic Chorea) 06/2017 - 07/2013
2	Liver Failure 01/2017 - 01/2017
2	Hepatocellular Carcinoma (Hepatoma) 01/2017 - 07/2008
2	Liver Diseases (Liver Disease) 01/2017 - 09/2012
2	Methylmalonic acidemia 01/2014 - 12/2010
2	Mucolipidoses (Sialidosis) 07/2013 - 02/2010
2	Maternally Inherited Leigh Syndrome 08/2010 - 09/2007
2	Pyruvate Dehydrogenase Complex Deficiency Disease 05/2007 - 07/2006
1	Pathologic Neovascularization 01/2022
1	Schizencephaly 01/2022
1	Propionic Acidemia 01/2022
1	Eye Diseases (Eye Disease) 01/2022
1	Polymicrogyria 01/2022
1	Cardiovascular Diseases (Cardiovascular Disease) 11/2021
1	Mitochondrial Myopathies (Mitochondrial Myopathy) 03/2020
1	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 03/2020
1	Necrotizing Enterocolitis 03/2020
1	neonatal Progeroid syndrome 01/2020
1	Anodontia (Hypodontia) 01/2020
1	Body Weight (Weight, Body) 01/2020
1	Hyperostosis 01/2020
1	Stroke (Strokes) 09/2019
1	Cardiac Arrhythmias (Arrythmia) 09/2019
1	Acidosis 09/2019
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2019
1	Dementia (Dementias) 06/2017
1	Atrophy 06/2017
1	AB Variant Tay-Sachs Disease 06/2017
1	Neoplasms (Cancer) 05/2017
1	Liposarcoma 05/2017
1	Liver Neoplasms (Liver Cancer) 01/2017
1	Corneal Opacity 01/2017
1	Infant Death 01/2017
1	Primary Ovarian Insufficiency 01/2017
1	Mucopolysaccharidosis VII (Sly Syndrome) 01/2016
1	Rare Diseases (Rare Disease) 01/2016
1	Congenital Generalized Lipodystrophy (Berardinelli-Seip Congenital Lipodystrophy) 01/2015
1	Majeed syndrome 01/2015
1	Ichthyosis (Xeroderma) 01/2015
1	Rhabdomyolysis 01/2015
1	Hypertriglyceridemia 01/2015
1	Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 01/2015

Drug/Important Bio-Agent (IBA)

6	Proteins (Proteins, Gene)FDA Link 01/2020 - 12/2005
5	Triglycerides (Triacylglycerol)IBA 12/2017 - 07/2005
5	Sterol Esterase (Hormone-Sensitive Lipase)IBA 12/2017 - 07/2005
5	Fatty Acids (Saturated Fatty Acids)IBA 05/2017 - 07/2005
4	LipidsIBA 01/2022 - 08/2004
4	Acyl Coenzyme A (Acyl CoA)IBA 01/2022 - 07/2005
4	Mitochondrial DNA (mtDNA)IBA 03/2020 - 09/2007
4	nitisinone (Orfadin)FDA Link 01/2017 - 09/2012
3	Glucose (Dextrose)FDA LinkGeneric 01/2020 - 07/2003
3	KetonesIBA 01/2020 - 03/2004
3	Coenzyme A (CoA)IBA 09/2019 - 07/2007
3	succinylacetoneIBA 03/2018 - 05/2006
3	Tyrosine (L-Tyrosine)FDA Link 01/2017 - 05/2006
3	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 01/2014 - 03/2009
2	Lipase (Acid Lipase)FDA Link 05/2017 - 01/2015
2	fumarylacetoacetase (fumarylacetoacetate hydrolase)IBA 01/2017 - 09/2012
2	EnzymesIBA 02/2010 - 07/2005
2	Oxidoreductases (Dehydrogenase)IBA 05/2007 - 07/2006
2	Pyruvic Acid (Pyruvate)IBA 05/2007 - 07/2006
1	Propionyl-Coenzyme A Carboxylase (Propionyl CoA Carboxylase)IBA 01/2022
1	Retinaldehyde (Retinal)IBA 01/2022
1	Carnitine palmitoyl transferase 2 deficiencyIBA 01/2022
1	Asialoglycoprotein ReceptorIBA 11/2021
1	Propylthiouracil FDA Link 01/2020
1	3,8-dihydroxy-6H-dibenzo(b,d)pyran-6-oneIBA 01/2020
1	Hydroxybutyrate Dehydrogenase (3 Hydroxybutyrate Dehydrogenase)IBA 01/2020
1	RNA (Ribonucleic Acid)IBA 01/2020
1	RNA Polymerase IIIIBA 01/2020
1	Thyroid HormonesIBA 01/2020
1	Hydrolyzable TanninsIBA 01/2020
1	AdipokinesIBA 12/2017
1	Nonsense Codon (Nonsense Mutation)IBA 06/2017
1	G(M2) Ganglioside (Ganglioside GM2)IBA 06/2017
1	Glycerides (Acylglycerol)IBA 05/2017
1	Follicle Stimulating Hormone (Follitropin)FDA Link 01/2017
1	Phenylalanine (L-Phenylalanine)FDA Link 01/2017
1	Fumarate Hydratase (Fumarase)IBA 11/2016
1	GlucuronidaseIBA 01/2016
1	PyridoxalIBA 01/2015
1	Perilipin-1IBA 01/2015

Therapy/Procedure

4	Liver Transplantation 01/2017 - 09/2012
3	Diet Therapy (Therapy, Diet) 01/2017 - 01/2017
1	Enteral Nutrition (Feeding, Tube) 03/2020