Bruce A Barshop Selected Research

malonyl-CoA synthetase

8/2011

Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.

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Bruce A Barshop Research Topics

Disease

9	Cystinosis 01/2016 - 06/2006
4	Fabry Disease (Fabry's Disease) 11/2023 - 10/2004
3	Hyperammonemia 01/2017 - 12/2007
3	Chronic Kidney Failure (Chronic Renal Failure) 01/2016 - 05/2009
2	Brain Diseases (Brain Disorder) 03/2020 - 04/2004
2	Homocystinuria 03/2020 - 01/2018
2	Acidosis 01/2017 - 08/2015
2	Holocarboxylase Synthetase Deficiency 01/2017 - 12/2008
2	Ketosis 01/2017 - 09/2002
2	Ornithine Carbamoyltransferase Deficiency Disease 01/2016 - 12/2007
2	Failure to Thrive 08/2015 - 11/2007
2	Alkaptonuria 03/2015 - 01/2015
2	Maple Syrup Urine Disease 05/2006 - 12/2005
2	Mitochondrial Diseases (Mitochondrial Disease) 09/2004 - 09/2004
1	Neoplasms (Cancer) 10/2021
1	Lymphoma (Lymphomas) 10/2021
1	Autism Spectrum Disorder 11/2020
1	Neurologic Manifestations (Neurological Manifestations) 04/2020
1	Brain Edema (Cerebral Edema) 03/2020
1	Hypermethioninemia 03/2020
1	Insulin Resistance 01/2020
1	Obesity 01/2020
1	Type 2 Diabetes Mellitus (MODY) 01/2020
1	Hyperglycemia 01/2020
1	biotin-responsive Basal ganglia disease 12/2019
1	Glycogen Storage Disease Type VI (Glycogenosis Type VI) 12/2019
1	Lissencephaly 01/2018
1	Respiratory Insufficiency (Respiratory Failure) 01/2017
1	Glycogen Storage Disease Type II (Pompe's Disease) 01/2017
1	Fanconi Syndrome (Syndrome, Fanconi) 01/2016
1	Lysosomal Storage Diseases (Lysosomal Storage Disease) 01/2016
1	Muscle Hypotonia (Hypotonia) 08/2015
1	Multiple Sclerosis 08/2015
1	Paresis (Hemiparesis) 08/2015
1	Tyrosinemias (Tyrosinemia) 03/2015
1	VLCAD deficiency 04/2014
1	Huntington Disease (Huntington's Disease) 04/2014
1	Non-alcoholic Fatty Liver Disease 04/2014
1	Ureteral Obstruction 01/2014
1	Ischemia 01/2014
1	Fibrosis (Cirrhosis) 01/2014
1	Chronic Renal Insufficiency 12/2013
1	Diabetic Nephropathies (Diabetic Nephropathy) 11/2013
1	Diabetes Complications 11/2013
1	Guanidinoacetate methyltransferase deficiency 06/2013
1	Short chain Acyl CoA dehydrogenase deficiency 05/2012
1	Combined Malonic and Methylmalonic Aciduria 08/2011
1	Renal Insufficiency (Renal Failure) 08/2011
1	Primary Ovarian Insufficiency 08/2011
1	Neurodegenerative Diseases (Neurodegenerative Disease) 09/2010
1	Body Weight (Weight, Body) 01/2010

Drug/Important Bio-Agent (IBA)

7	Cysteamine (Mercaptamine)FDA Link 04/2014 - 06/2006
4	Biomarkers (Surrogate Marker)IBA 10/2021 - 11/2013
4	Proteins (Proteins, Gene)FDA Link 04/2020 - 01/2010
4	AcidsIBA 01/2017 - 09/2004
4	Cystine (L-Cystine)IBA 01/2016 - 01/2010
4	EnzymesIBA 01/2016 - 07/2003
3	Biotin (Vitamin H)FDA Link 12/2019 - 12/2008
2	Lactic Acid (Lactate)FDA LinkGeneric 10/2021 - 09/2004
2	Betaine (C.B.B.)FDA Link 03/2020 - 01/2020
2	Methionine (L-Methionine)FDA Link 03/2020 - 04/2004
2	Urea (Carbamide)FDA LinkGeneric 01/2016 - 07/2003
2	Tyrosine (L-Tyrosine)FDA Link 03/2015 - 01/2015
2	4-hydroxyphenylpyruvic acidIBA 03/2015 - 01/2015
2	nitisinone (Orfadin)FDA Link 03/2015 - 01/2015
2	Fatty Acids (Saturated Fatty Acids)IBA 04/2014 - 05/2012
2	agalsidase alfaIBA 12/2013 - 05/2009
2	Cysteine (L-Cysteine)FDA Link 05/2010 - 01/2010
1	agalsidase beta FDA Link 11/2023
1	Neurotransmitter Agents (Neurotransmitter)IBA 10/2021
1	gamma-Aminobutyric Acid (GABA)IBA 10/2021
1	X-linked Creatine deficiencyIBA 11/2020
1	purineIBA 01/2020
1	Aromatic Amino Acids (Aromatic Amino Acid)IBA 01/2020
1	Nucleic AcidsIBA 01/2020
1	Thiamine (Aneurin)FDA Link 12/2019
1	CystathionineIBA 01/2018
1	CateninsIBA 01/2018
1	alpha-Glucosidases (Acid Maltase)IBA 01/2017
1	human GAA protein (Myozyme)FDA Link 01/2017
1	Ligases (Synthetase)IBA 01/2017
1	Leucine (L-Leucine)FDA Link 08/2015
1	3-methylcrotonyl CoA carboxylase 1 deficiencyIBA 08/2015
1	methylcyanocarbamate dimerIBA 08/2015
1	Tryptophan (L-Tryptophan)FDA Link 03/2015
1	Homogentisate 1,2-Dioxygenase (Homogentisate 1,2 Dioxygenase)IBA 01/2015
1	AntioxidantsIBA 01/2014
1	globotriaosylceramide (globotriosylceramide)IBA 12/2013
1	Mitochondrial DNA (mtDNA)IBA 11/2013
1	AnionsIBA 11/2013
1	Mitochondrial Proteins (Mitochondrial Protein)IBA 11/2013
1	Guanidinoacetate N-Methyltransferase (Guanidinoacetate Methyltransferase)IBA 06/2013
1	glycocyamineIBA 06/2013
1	malonyl-CoA synthetaseIBA 08/2011
1	methylmalonyl-coenzyme A (methylmalonyl CoA)IBA 08/2011
1	2'- deoxythymidylyl- (3'- 5')- 2'- deoxyadenosine (d(AT))IBA 05/2009

Therapy/Procedure

5	Therapeutics 01/2017 - 04/2002
3	Enzyme Replacement Therapy 01/2017 - 10/2004
3	Liver Transplantation 05/2006 - 09/2002
1	Kidney Transplantation 08/2011