Avihu Boneh Selected Research

2-ethylhydracrylic acid

3/2005

2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the R-pathway of isoleucine oxidation.

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Avihu Boneh Research Topics

Disease

3	Phenylketonurias (Phenylketonuria) 01/2018 - 01/2007
3	VLCAD deficiency 01/2017 - 12/2014
3	Glycogen Storage Disease (Glycogenosis) 01/2017 - 03/2013
3	Inborn Errors Metabolism (Inborn Errors of Metabolism) 06/2016 - 11/2002
2	Maple Syrup Urine Disease 01/2017 - 01/2017
2	Propionic Acidemia 01/2017 - 01/2017
2	Methylmalonic acidemia 01/2017 - 01/2017
2	Lactic Acidosis 01/2015 - 08/2008
2	Leigh Disease (Leigh's Disease) 01/2015 - 10/2003
2	Fibrosis (Cirrhosis) 03/2013 - 01/2008
2	Argininosuccinic Aciduria 03/2013 - 01/2008
2	Nonketotic Hyperglycinemia 01/2005 - 07/2004
1	Ornithine Carbamoyltransferase Deficiency Disease 01/2019
1	Hyperkalemia 03/2018
1	Necrotizing Enterocolitis 03/2018
1	Smith-Lemli-Opitz Syndrome 03/2018
1	Sepsis (Septicemia) 03/2018
1	Hyponatremia 03/2018
1	Hypocalcemia 03/2018
1	isovaleric Acidemia 01/2017
1	Beta-Hydroxyisobutyryl CoA Deacylase Deficiency 08/2015
1	Hypoglycemia (Reactive Hypoglycemia) 05/2015
1	Ataxia (Dyssynergia) 01/2015
1	Pyruvate Dehydrogenase Complex Deficiency Disease 01/2015
1	Drug Resistant Epilepsy 11/2014
1	Malnutrition (Nutritional Deficiencies) 09/2014
1	Glycogen Storage Disease Type Ix 03/2014
1	Ketosis 09/2013
1	Inborn Urea Cycle Disorders 03/2013
1	Intellectual Disability (Idiocy) 08/2012
1	Vomiting 08/2012
1	Asthma (Bronchial Asthma) 08/2008
1	Mitochondrial encephalopathy 08/2008
1	Stroke (Strokes) 08/2008
1	Vascular Diseases (Vascular Disease) 08/2008
1	MELAS Syndrome (Syndrome, MELAS) 08/2008
1	Medium chain acyl CoA dehydrogenase deficiency 01/2007
1	Hemochromatosis (Bronze Diabetes) 02/2006
1	2-Methylbutyryl-CoA Dehydrogenase Deficiency 03/2005

Drug/Important Bio-Agent (IBA)

5	Proteins (Proteins, Gene)FDA Link 01/2017 - 08/2012
3	Fatty Acids (Saturated Fatty Acids)IBA 01/2016 - 12/2014
2	Urea (Carbamide)FDA LinkGeneric 01/2019 - 01/2017
2	Ornithine Carbamoyltransferase (Ornithine Transcarbamylase)IBA 01/2017 - 03/2013
2	Phenylalanine (L-Phenylalanine)FDA Link 01/2017 - 01/2007
2	Dietary ProteinsIBA 01/2016 - 08/2012
2	Long-Chain Acyl-CoA Dehydrogenase (Long-Chain-Acyl-Coenzyme A Dehydrogenase)IBA 01/2016 - 12/2014
2	Pyruvate Dehydrogenase Complex (Dehydrogenase Complex, Pyruvate)IBA 01/2015 - 02/2006
2	Ligases (Synthetase)IBA 03/2013 - 02/2006
2	EnzymesIBA 03/2013 - 03/2005
2	Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)IBA 01/2007 - 02/2006
1	OrnithineIBA 01/2019
1	ElectrolytesIBA 03/2018
1	CholesterolIBA 03/2018
1	DeuteriumIBA 01/2018
1	Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA 01/2017
1	Riboflavin (Vitamin B2)FDA LinkGeneric 06/2016
1	Flavin-Adenine Dinucleotide (FAD)IBA 06/2016
1	Valine (L-Valine)FDA Link 08/2015
1	Coenzyme A (CoA)IBA 05/2015
1	Thiamine (Aneurin)FDA Link 01/2015
1	Essential Amino AcidsIBA 09/2014
1	Phosphorylase Kinase (Phosphorylase Kinase, Glycogen)IBA 03/2014
1	Beta ketothiolase deficiencyIBA 09/2013
1	Argininosuccinate LyaseIBA 03/2013
1	AmmoniaIBA 03/2013
1	GlycogenIBA 03/2013
1	Carbamyl Phosphate (Carbamoyl Phosphate)IBA 03/2013
1	Argininosuccinate Synthase (Argininosuccinate Synthetase)IBA 03/2013
1	CreatineIBA 08/2008
1	Arginine (L-Arginine)FDA Link 08/2008
1	Neurotransmitter Agents (Neurotransmitter)IBA 01/2007
1	MolybdenumIBA 02/2006
1	pantothenate kinaseIBA 02/2006
1	Citrate (si)-Synthase (Synthase, Citrate)IBA 02/2006
1	2-ethylhydracrylic acidIBA 03/2005
1	Isoleucine (L-Isoleucine)FDA Link 03/2005
1	2-methylbutyrylglycineIBA 03/2005
1	Methionine (L-Methionine)FDA Link 01/2005
1	Codon (Codons)IBA 01/2005
1	glycine cleavage systemIBA 01/2005
1	NucleotidesIBA 01/2005
1	Sodium Benzoate FDA Link 07/2004
1	Ketamine FDA LinkGeneric 07/2004
1	Mitochondrial DNA (mtDNA)IBA 10/2003
1	Protein Kinase CIBA 11/2002

Therapy/Procedure

2	Liver Transplantation 01/2019 - 01/2008
1	Ketogenic Diet 11/2014
1	Diet Therapy (Therapy, Diet) 08/2014