Dariusz Rokicki Selected Research

N-acetylglutamic acid

12/2021

Noncoding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene.

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Dariusz Rokicki Research Topics

Disease

5	Glycogen Storage Disease (Glycogenosis) 05/2022 - 09/2015
4	Seizures (Absence Seizure) 12/2021 - 05/2012
3	Mitochondrial Diseases (Mitochondrial Disease) 01/2022 - 04/2018
3	Acidosis 01/2022 - 05/2012
3	Brain Diseases (Brain Disorder) 12/2021 - 01/2016
3	Epilepsy (Aura) 01/2016 - 05/2012
3	Hyaline Fibromatosis Syndrome 10/2015 - 04/2011
2	Neutropenia 05/2022 - 01/2022
2	Hypoglycemia (Reactive Hypoglycemia) 01/2022 - 09/2015
2	Basal Ganglia Diseases (Basal Ganglia Disease) 12/2021 - 01/2017
2	Inborn Urea Cycle Disorders 12/2021 - 09/2017
2	Metabolic Diseases (Metabolic Disease) 01/2021 - 09/2017
2	Congenital Disorders of Glycosylation 01/2021 - 05/2016
2	Failure to Thrive 05/2020 - 08/2017
2	Sensorineural Hearing Loss 05/2020 - 12/2015
2	Hyperventilation 01/2018 - 12/2015
2	Hypercalciuria 08/2017 - 07/2007
1	Hypertriglyceridemia 01/2022
1	Hyperuricemia 01/2022
1	Hepatomegaly 01/2022
1	Hypercholesterolemia 01/2022
1	Dysarthria (Spastic Dysarthria) 12/2021
1	Deglutition Disorders (Dysphagia) 12/2021
1	Confusion (Bewilderment) 12/2021
1	Ornithine Carbamoyltransferase Deficiency Disease 01/2021
1	Anorexia Nervosa 01/2021
1	Acute Liver Failure (Fulminant Hepatic Failure) 01/2021
1	Nausea 01/2021
1	Mutism (Selective Mutism) 01/2021
1	Migraine Disorders (Migraine) 01/2021
1	Portal Hypertension 01/2021
1	isovaleric Acidemia 09/2020
1	Obstructive Jaundice (Cholestatic Jaundice) 05/2020
1	Hypoalbuminemia 05/2020
1	Neonatal-onset citrullinemia type 2 05/2020
1	Hyperopia (Hypermetropia) 05/2020
1	Proteinuria 05/2020
1	Exocrine Pancreatic Insufficiency 05/2020
1	Methylmalonic aciduria cblA type 03/2020
1	Rare Diseases (Rare Disease) 03/2020
1	Methylmalonic acidemia 03/2020
1	Glaucoma 03/2019
1	Ocular Hypertension (Glaucoma, Suspect) 03/2019
1	Glutaric Acidemia I 01/2019
1	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 04/2018
1	Cardiomyopathies (Cardiomyopathy) 01/2018
1	Lactic Acidosis 01/2018
1	Hyperammonemia 09/2017
1	Vomiting 08/2017
1	Dehydration (Water Stress) 08/2017

Drug/Important Bio-Agent (IBA)

3	Glucose-6-PhosphateIBA 05/2022 - 12/2021
3	Lactic Acid (Lactate)FDA LinkGeneric 01/2022 - 12/2015
3	Biotin (Vitamin H)FDA Link 12/2021 - 12/2015
3	Proteins (Proteins, Gene)FDA Link 01/2021 - 10/2015
2	Creatine Kinase (Creatine Phosphokinase)IBA 01/2022 - 01/2014
2	AcidsIBA 01/2022 - 12/2015
2	Glucose (Dextrose)FDA LinkGeneric 12/2021 - 01/2021
2	Pharmaceutical PreparationsIBA 12/2021 - 01/2016
2	EnzymesIBA 12/2021 - 01/2016
2	Thiamine (Aneurin)FDA Link 12/2021 - 01/2017
2	GlycogenIBA 01/2021 - 09/2015
1	Granulocyte Colony-Stimulating Factor (G-CSF)IBA 05/2022
1	empagliflozinIBA 05/2022
1	Sodium-Glucose Transport ProteinsIBA 05/2022
1	fibroblast growth factor 21IBA 01/2022
1	Biomarkers (Surrogate Marker)IBA 01/2022
1	Carrier Proteins (Binding Protein)IBA 01/2022
1	Alanine (L-Alanine)FDA Link 01/2022
1	CarbohydratesIBA 12/2021
1	N-acetylglutamic acidIBA 12/2021
1	N-acetyl glutamate synthetase deficiencyIBA 12/2021
1	N-carbamylglutamateIBA 12/2021
1	Ligases (Synthetase)IBA 12/2021
1	Adenosine Triphosphate (ATP)IBA 06/2021
1	LipidsIBA 01/2021
1	Transaminases (Aminotransferases)IBA 01/2021
1	AmmoniaIBA 01/2021
1	Dietary ProteinsIBA 01/2021
1	Polysaccharides (Glycans)IBA 01/2021
1	Ornithine Carbamoyltransferase (Ornithine Transcarbamylase)IBA 01/2021
1	KetonesIBA 01/2021
1	Leucine (L-Leucine)FDA Link 09/2020
1	CitrullineIBA 05/2020
1	Amino Acids FDA Link 05/2020
1	Transferrin (beta 2 Transferrin)IBA 05/2020
1	Methylmalonyl-CoA MutaseIBA 03/2020
1	Methylmalonic AcidIBA 03/2020
1	Benzalkonium Compounds (Benzalkonium Chloride)FDA LinkGeneric 03/2019
1	Latanoprost (Xalatan)FDA Link 03/2019
1	Riboflavin (Vitamin B2)FDA LinkGeneric 01/2019
1	Valproic Acid (Depakote)FDA LinkGeneric 04/2018
1	Oxygen (Dioxygen)IBA 01/2018
1	A-factor (Streptomyces)IBA 01/2018
1	Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)IBA 01/2018
1	Vitamin D3 24-HydroxylaseIBA 08/2017

Therapy/Procedure

5	Therapeutics 05/2022 - 05/2012
2	Liver Transplantation 01/2021 - 09/2017
1	Drug Tapering 05/2022
1	Diet Therapy (Therapy, Diet) 09/2017
1	Protein-Restricted Diet (Diet, Protein Restricted) 09/2017