Ljubica Caldovic Selected Research

N-carbamylglutamate

12/2021	Noncoding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene.
10/2018	N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region.
10/2011	N-carbamylglutamate enhancement of ureagenesis leads to discovery of a novel deleterious mutation in a newly defined enhancer of the NAGS gene and to effective therapy.
8/2008	N-carbamylglutamate markedly enhances ureagenesis in N-acetylglutamate deficiency and propionic acidemia as measured by isotopic incorporation and blood biomarkers.

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Ljubica Caldovic Research Topics

Disease

10	Hyperammonemia 01/2022 - 12/2002
6	Inborn Urea Cycle Disorders 01/2022 - 08/2007
2	Neurogenic Urinary Bladder (Bladder, Neurogenic) 01/2021 - 08/2016
2	Leukoencephalopathies 03/2016 - 05/2013
2	Ornithine Carbamoyltransferase Deficiency Disease 05/2015 - 11/2007
1	Brain Injuries (Brain Injury) 01/2022
1	Pyuria 08/2016
1	Mitochondrial Diseases (Mitochondrial Disease) 03/2016
1	Atrophy 05/2013
1	Methylmalonic acidemia 08/2008
1	Propionic Acidemia 08/2008
1	Inborn Genetic Diseases (Disease, Hereditary) 11/2007
1	Diseases Newborn Infant 04/2003

Drug/Important Bio-Agent (IBA)

9	N-acetyl glutamate synthetase deficiencyIBA 12/2021 - 12/2002
5	Urea (Carbamide)FDA LinkGeneric 01/2022 - 11/2007
5	EnzymesIBA 01/2022 - 08/2008
4	N-carbamylglutamateIBA 12/2021 - 08/2008
3	Amino-Acid N-Acetyltransferase (N-Acetylglutamate Synthase)IBA 06/2012 - 04/2003
2	N-acetylglutamic acidIBA 12/2021 - 08/2008
2	Pharmaceutical PreparationsIBA 12/2021 - 10/2018
2	Ornithine Carbamoyltransferase (Ornithine Transcarbamylase)IBA 05/2015 - 11/2007
2	Glutamine (L-Glutamine)FDA Link 06/2012 - 08/2008
2	Biomarkers (Surrogate Marker)IBA 10/2011 - 08/2008
1	AmmoniaIBA 01/2022
1	Protons (Proton)IBA 01/2022
1	Ligases (Synthetase)IBA 12/2021
1	Dietary ProteinsIBA 10/2018
1	leukocyte esteraseIBA 08/2016
1	NitritesIBA 08/2016
1	Succinate Dehydrogenase (Fumarate Reductase)IBA 03/2016
1	TubulinIBA 05/2013
1	OrnithineIBA 06/2012
1	Lysine (L-Lysine)FDA Link 06/2012
1	CitrullineIBA 06/2012
1	Glutamic Acid (Glutamate)FDA Link 06/2012
1	Arginine (L-Arginine)FDA Link 06/2012
1	Proline (L-Proline)FDA Link 06/2012
1	IsotopesIBA 10/2011
1	Glycine (Aminoacetic Acid)FDA LinkGeneric 08/2008
1	Fatty Acids (Saturated Fatty Acids)IBA 08/2008
1	Alanine (L-Alanine)FDA Link 08/2008
1	DNA (Deoxyribonucleic Acid)IBA 04/2003

Therapy/Procedure

2	Therapeutics 10/2018 - 10/2011
1	Intravesical Administration 01/2021