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Rebecca C Ahrens-Nicklas Selected Research

succinylacetone

6/2020The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening.

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Rebecca C Ahrens-Nicklas Research Topics

Disease

4Phenylketonurias (Phenylketonuria)
04/2024 - 10/2023
4Multiple Sulfatase Deficiency Disease (Mucosulfatidosis)
12/2023 - 05/2020
3Mucopolysaccharidoses
04/2024 - 05/2020
2Tyrosinemias (Tyrosinemia)
04/2024 - 06/2020
2Lysosomal Storage Diseases (Lysosomal Storage Disease)
12/2023 - 10/2023
2Rare Diseases (Rare Disease)
10/2023 - 05/2020
2Cardiovascular Diseases (Cardiovascular Disease)
09/2023 - 01/2021
2Nervous System Diseases (Neurological Disorders)
10/2020 - 02/2017
1Cardiomyopathies (Cardiomyopathy)
10/2023
1Dementia (Dementias)
01/2022
1Dilated Cardiomyopathy (Cardiomyopathy, Congestive)
01/2022
1Brain Diseases (Brain Disorder)
01/2021
1Disease Progression
11/2020
1X-Linked Ichthyosis (Ichthyosis, X Linked)
11/2020
1Chondrodysplasia Punctata (Stippled Epiphyses)
11/2020
1Metachromatic Leukodystrophy (Sulfatide Lipidosis)
11/2020
1Maple Syrup Urine Disease
10/2020
1Hepatocellular Carcinoma (Hepatoma)
06/2020
1Hyperinsulinism (Hyperinsulinemia)
06/2020
1Failure to Thrive
06/2020
1Liver Diseases (Liver Disease)
06/2020
1Bone Diseases (Bone Disease)
06/2020
1Fibrosis (Cirrhosis)
06/2020
1Sphingolipidoses (Sphingolipidosis)
05/2020
1Gaucher Disease (Gaucher's Disease)
07/2019
1Glutamate formiminotransferase deficiency
01/2019
1Major Depressive Disorder (Major Depressive Disorders)
01/2018
1Seizures (Absence Seizure)
02/2017
1Homocystinuria
01/2015
1Methylmalonic acidemia
01/2015
1Cardiac Arrhythmias (Arrythmia)
06/2009

Drug/Important Bio-Agent (IBA)

4Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA
04/2024 - 10/2023
4SulfatasesIBA
12/2023 - 05/2020
3EnzymesIBA
10/2023 - 07/2019
2Phenylalanine (L-Phenylalanine)FDA Link
10/2023 - 10/2023
2N-formylglycineIBA
10/2023 - 01/2023
2omega-Chloroacetophenone (Mace)IBA
09/2023 - 01/2021
1Iduronidase (alpha-L-Iduronidase)IBA
04/2024
1fumarylacetoacetase (fumarylacetoacetate hydrolase)IBA
04/2024
1Messenger RNA (mRNA)IBA
10/2023
1Arginine (L-Arginine)FDA Link
10/2023
1Biomarkers (Surrogate Marker)IBA
10/2023
1Bexarotene (LGD1069)FDA Link
01/2023
1tazarotene (Tazorac)FDA Link
01/2023
1Lysergic Acid Diethylamide (LSD)IBA
01/2022
1Myosin Heavy Chains (Myosin Heavy Chain)IBA
01/2022
1Transcription Factors (Transcription Factor)IBA
01/2021
1Branched-Chain Amino AcidsIBA
10/2020
1Oxidoreductases (Dehydrogenase)IBA
10/2020
1succinylacetoneIBA
06/2020
1Tyrosine (L-Tyrosine)FDA Link
06/2020
1Glucosylceramidase (Glucocerebrosidase)IBA
07/2019
1Folic Acid (Vitamin M)FDA LinkGeneric
01/2019
1perampanelIBA
02/2017
1Methionine (L-Methionine)FDA Link
01/2015
1Sodium Channels (Sodium Channel)IBA
06/2009
1Propranolol (Inderal)FDA LinkGeneric
06/2009

Therapy/Procedure

2Therapeutics
01/2018 - 02/2017