Mendel Tuchman Selected Research

Ornithine Carbamoyltransferase Deficiency Disease

12/2018	Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium.
5/2015	Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update.
8/2008	Cross-sectional multicenter study of patients with urea cycle disorders in the United States.
1/2008	Acute fatal presentation of ornithine transcarbamylase deficiency in a previously healthy male.
11/2007	Streamlined assessment of gene variants by high resolution melt profiling utilizing the ornithine transcarbamylase gene as a model system.
7/2006	Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene.
4/2005	Management and outcome of neonatal-onset ornithine transcarbamylase deficiency following liver transplantation at 60 days of life.
6/2003	Brain MR imaging in neonatal hyperammonemic encephalopathy resulting from proximal urea cycle disorders.
2/2002	Mutations and polymorphisms in the human ornithine transcarbamylase gene.

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Mendel Tuchman Research Topics

Disease

16	Hyperammonemia 12/2018 - 02/2002
9	Ornithine Carbamoyltransferase Deficiency Disease 12/2018 - 02/2002
8	Inborn Urea Cycle Disorders 12/2021 - 06/2003
2	Inborn Errors Metabolism (Inborn Errors of Metabolism) 12/2018 - 12/2016
2	Methylmalonic acidemia 12/2018 - 08/2008
2	Propionic Acidemia 07/2010 - 08/2008
1	Rare Diseases (Rare Disease) 01/2017
1	Disease Progression 02/2013
1	Cognitive Dysfunction 01/2010
1	Coma (Comas) 01/2009
1	Citrullinemia 08/2008
1	Argininosuccinic Aciduria 08/2008
1	Encephalocele (Encephalocele, Frontal) 01/2008
1	Liver Diseases (Liver Disease) 01/2008
1	Brain Edema (Cerebral Edema) 01/2008
1	Infections 01/2008
1	Inborn Genetic Diseases (Disease, Hereditary) 11/2007
1	Hyperkinesis 10/2003
1	succinic semialdehyde dehydrogenase deficiency 10/2003
1	Brain Diseases (Brain Disorder) 06/2003
1	Diseases Newborn Infant 04/2003
1	Neuroblastoma 04/2002
1	Neoplasms (Cancer) 04/2002

Drug/Important Bio-Agent (IBA)

9	N-acetyl glutamate synthetase deficiencyIBA 12/2021 - 12/2002
9	Urea (Carbamide)FDA LinkGeneric 11/2019 - 04/2004
8	EnzymesIBA 12/2021 - 04/2004
8	Ornithine Carbamoyltransferase (Ornithine Transcarbamylase)IBA 05/2015 - 02/2002
6	N-carbamylglutamateIBA 12/2021 - 08/2008
5	Pharmaceutical PreparationsIBA 12/2021 - 01/2008
4	Glutamine (L-Glutamine)FDA Link 06/2012 - 10/2003
3	Ligases (Synthetase)IBA 12/2021 - 06/2003
3	AmmoniaIBA 12/2018 - 01/2009
3	Glutamic Acid (Glutamate)FDA Link 01/2017 - 10/2003
3	Amino-Acid N-Acetyltransferase (N-Acetylglutamate Synthase)IBA 06/2012 - 04/2003
2	N-acetylglutamic acidIBA 12/2021 - 08/2008
2	IsotopesIBA 01/2014 - 10/2011
2	Carbamyl Phosphate (Carbamoyl Phosphate)IBA 02/2013 - 06/2003
2	CitrullineIBA 06/2012 - 08/2008
2	Arginine (L-Arginine)FDA Link 06/2012 - 08/2008
2	Biomarkers (Surrogate Marker)IBA 10/2011 - 08/2008
1	Dietary ProteinsIBA 10/2018
1	Argininosuccinate LyaseIBA 02/2013
1	Argininosuccinate Synthase (Argininosuccinate Synthetase)IBA 02/2013
1	Proline (L-Proline)FDA Link 06/2012
1	Lysine (L-Lysine)FDA Link 06/2012
1	OrnithineIBA 06/2012
1	Alanine (L-Alanine)FDA Link 08/2008
1	Glycine (Aminoacetic Acid)FDA LinkGeneric 08/2008
1	Proteins (Proteins, Gene)FDA Link 08/2008
1	Fatty Acids (Saturated Fatty Acids)IBA 08/2008
1	ornithine transporter (ornithine translocase)IBA 12/2005
1	phenylacetic acid (phenylacetate)FDA Link 04/2004
1	Sodium Benzoate FDA Link 04/2004
1	Investigational DrugsIBA 04/2004
1	Neurotransmitter Agents (Neurotransmitter)IBA 10/2003
1	gamma-Aminobutyric Acid (GABA)IBA 10/2003
1	Serotonin (5 Hydroxytryptamine)IBA 10/2003
1	Dopamine (Intropin)FDA LinkGeneric 10/2003
1	Succinate-Semialdehyde Dehydrogenase (Succinic Semialdehyde Dehydrogenase)IBA 10/2003
1	DNA (Deoxyribonucleic Acid)IBA 04/2003
1	CatecholaminesIBA 04/2002

Therapy/Procedure

3	Therapeutics 10/2018 - 01/2008
1	Precision Medicine 01/2017
1	Liver Transplantation 04/2005