Rebecca C Ahrens-Nicklas Selected Research

Glutamate formiminotransferase deficiency

1/2019

Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening.

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Rebecca C Ahrens-Nicklas Research Topics

Disease

2	Mucopolysaccharidoses 11/2020 - 05/2020
2	Nervous System Diseases (Neurological Disorders) 10/2020 - 02/2017
1	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 09/2022
1	Dementia (Dementias) 01/2022
1	Brain Diseases (Brain Disorder) 01/2021
1	Cardiovascular Diseases (Cardiovascular Disease) 01/2021
1	Chondrodysplasia Punctata (Stippled Epiphyses) 11/2020
1	Metachromatic Leukodystrophy (Sulfatide Lipidosis) 11/2020
1	Disease Progression 11/2020
1	X-Linked Ichthyosis (Ichthyosis, X Linked) 11/2020
1	Maple Syrup Urine Disease 10/2020
1	Bone Diseases (Bone Disease) 06/2020
1	Failure to Thrive 06/2020
1	Fibrosis (Cirrhosis) 06/2020
1	Hepatocellular Carcinoma (Hepatoma) 06/2020
1	Hyperinsulinism (Hyperinsulinemia) 06/2020
1	Liver Diseases (Liver Disease) 06/2020
1	Tyrosinemias (Tyrosinemia) 06/2020
1	Multiple Sulfatase Deficiency Disease (Mucosulfatidosis) 05/2020
1	Rare Diseases (Rare Disease) 05/2020
1	Sphingolipidoses (Sphingolipidosis) 05/2020
1	Gaucher Disease (Gaucher's Disease) 07/2019
1	Glutamate formiminotransferase deficiency 01/2019
1	Major Depressive Disorder (Major Depressive Disorders) 01/2018
1	Seizures (Absence Seizure) 02/2017
1	Methylmalonic acidemia 01/2015
1	Homocystinuria 01/2015
1	Cardiac Arrhythmias (Arrythmia) 06/2009

Drug/Important Bio-Agent (IBA)

2	SulfatasesIBA 11/2020 - 05/2020
1	Myosin Heavy Chains (Myosin Heavy Chain)IBA 09/2022
1	Lysergic Acid Diethylamide (LSD)IBA 01/2022
1	Transcription Factors (Transcription Factor)IBA 01/2021
1	omega-Chloroacetophenone (Mace)IBA 01/2021
1	Branched-Chain Amino AcidsIBA 10/2020
1	Oxidoreductases (Dehydrogenase)IBA 10/2020
1	succinylacetoneIBA 06/2020
1	Tyrosine (L-Tyrosine)FDA Link 06/2020
1	EnzymesIBA 07/2019
1	Glucosylceramidase (Glucocerebrosidase)IBA 07/2019
1	Folic Acid (Vitamin M)FDA LinkGeneric 01/2019
1	perampanelIBA 02/2017
1	Methionine (L-Methionine)FDA Link 01/2015
1	Sodium Channels (Sodium Channel)IBA 06/2009
1	Propranolol (Inderal)FDA LinkGeneric 06/2009

Therapy/Procedure

2	Therapeutics 01/2018 - 02/2017