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Andrea L Gropman Selected Research

Carbamyl Phosphate (Carbamoyl Phosphate)

1/2016Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.
9/2014Investigating neurological deficits in carriers and affected patients with ornithine transcarbamylase deficiency.
1/2010Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts.

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Andrea L Gropman Research Topics

Disease

8Ornithine Carbamoyltransferase Deficiency Disease
03/2021 - 05/2008
8Inborn Urea Cycle Disorders
01/2021 - 01/2010
5Hyperammonemia
01/2021 - 01/2010
4Klinefelter Syndrome (Klinefelter's Syndrome)
01/2022 - 06/2011
3Argininosuccinic Aciduria
01/2019 - 01/2016
2Inborn Genetic Diseases (Disease, Hereditary)
11/2021 - 01/2021
2Brain Diseases (Brain Disorder)
08/2020 - 01/2010
2Intellectual Disability (Idiocy)
01/2019 - 06/2015
2Seizures (Absence Seizure)
11/2018 - 06/2015
2Epilepsy (Aura)
06/2015 - 09/2014
2Brain Edema (Cerebral Edema)
09/2014 - 06/2013
2Mitochondrial Diseases (Mitochondrial Disease)
04/2013 - 09/2004
2Smith-Magenis Syndrome
04/2007 - 05/2006
1Corneal Edema
10/2020
1Aneuploidy (Aneuploid)
01/2020
1Azoospermia
01/2019
1Stroke (Strokes)
11/2018
1Methylmalonic acidemia
11/2018
1Hyperargininemia
01/2016
1Citrullinemia
01/2016
1Hearing Loss (Hearing Impairment)
06/2015
1Muscle Hypotonia (Hypotonia)
06/2015
1Congenital Disorders of Glycosylation
06/2015
1Status Epilepticus (Complex Partial Status Epilepticus)
09/2014
1Mitochondrial Encephalomyopathies (Mitochondrial Encephalomyopathy)
09/2014
1MELAS Syndrome (Syndrome, MELAS)
09/2014
1Lactic Acidosis
09/2014
1Lennox Gastaut Syndrome
09/2014
1Muenke Syndrome
11/2012
1Mental Disorders (Mental Disorder)
04/2012
1Autistic Disorder (Autism)
04/2012
1Paroxysmal Hemoglobinuria (Paroxysmal Nocturnal Hemoglobinuria)
02/2012
1Propionic Acidemia
01/2012
1Inflammation (Inflammations)
11/2011
1Periventricular Leukomalacia (Neonatal Cerebral Leukomalacia)
07/2011
1Bardet-Biedl Syndrome (Syndrome, Bardet-Biedl)
03/2007
1Huntington Disease (Huntington's Disease)
03/2007
1Beckwith-Wiedemann Syndrome (Exomphalos Macroglossia Gigantism Syndrome)
03/2007
1Deafness (Deaf Mutism)
03/2007
1Cystic Fibrosis (Mucoviscidosis)
03/2007
1Sleep Wake Disorders
05/2006
1Metabolic Diseases (Metabolic Disease)
04/2004
1Hypercholesterolemia
05/2002

Drug/Important Bio-Agent (IBA)

7Urea (Carbamide)FDA LinkGeneric
08/2020 - 05/2008
5Biomarkers (Surrogate Marker)IBA
11/2021 - 05/2002
4EnzymesIBA
01/2021 - 06/2013
3AmmoniaIBA
03/2021 - 11/2018
3Carbamyl Phosphate (Carbamoyl Phosphate)IBA
01/2016 - 01/2010
3Mitochondrial DNA (mtDNA)IBA
09/2014 - 09/2004
2Inositol (Myoinositol)IBA
03/2021 - 08/2020
2Glutamic Acid (Glutamate)FDA Link
03/2021 - 09/2009
2Carrier Proteins (Binding Protein)IBA
01/2021 - 09/2014
2Glutamine (L-Glutamine)FDA Link
08/2020 - 11/2018
2Ligases (Synthetase)IBA
01/2016 - 01/2010
2AndrogensIBA
03/2013 - 06/2011
2MelatoninIBA
04/2007 - 05/2006
1Choline (Choline Chloride)IBA
03/2021
1Protons (Proton)IBA
03/2021
1Proteins (Proteins, Gene)FDA Link
01/2021
1NitrogenIBA
01/2021
1Carbonic Anhydrase InhibitorsIBA
10/2020
1glycerol phenylbutyrateIBA
01/2020
1dichlorobis(azomycin)platinum IIIBA
01/2020
1SodiumIBA
01/2020
1Ammonium CompoundsIBA
01/2019
1Argininosuccinate Synthase (Argininosuccinate Synthetase)IBA
01/2019
1GonadotropinsIBA
01/2019
1Phosphates (Orthophosphate)IBA
11/2018
1HHH syndromeIBA
01/2016
1aspartate-glutamate carrierIBA
01/2016
1N-acetyl glutamate synthetase deficiencyIBA
01/2016
1ornithine transporter (ornithine translocase)IBA
01/2016
1citrinIBA
01/2016
1AlbuminsIBA
06/2015
1carbohydrate-deficient transferrinIBA
06/2015
1Polysaccharides (Glycans)IBA
06/2015
1Glycosylphosphatidylinositols (Glycosyl-Phosphatidylinositol)IBA
06/2015
1OrnithineIBA
09/2014
1Ethosuximide (Zarontin)FDA LinkGeneric
09/2014
1CitrullineIBA
09/2014
1Neurotransmitter Agents (Neurotransmitter)IBA
06/2013
1DNA (Deoxyribonucleic Acid)IBA
04/2013
1Type 3 Fibroblast Growth Factor Receptor (Fibroblast Growth Factor Receptor 3)IBA
11/2012
1snRNP Core ProteinsIBA
04/2012
1Complement System Proteins (Complement)IBA
02/2012
1N-Methyl-D-Aspartate Receptors (NMDA Receptors)IBA
11/2011
1N-Methylaspartate (NMDA)IBA
11/2011
1Pyruvate Dehydrogenase (Lipoamide)IBA
07/2011
1CarbonIBA
09/2009
1ConnexinsIBA
03/2007

Therapy/Procedure

6Therapeutics
01/2020 - 06/2011
1Hormone Replacement Therapy (Therapy, Hormone Replacement)
01/2022
1Protein-Restricted Diet (Diet, Protein Restricted)
01/2020
1Liver Transplantation
01/2012
1Gastrostomy
01/2012