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Stephanie Grunewald Selected Research

Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)

1/2021Pancreatitis in multiple acyl CoA dehydrogenase deficiency: An underdiagnosed complication.

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Stephanie Grunewald Research Topics

Disease

6Congenital Disorders of Glycosylation
06/2016 - 03/2002
4Epilepsy (Aura)
12/2023 - 03/2010
3Type C Niemann-Pick Disease (Niemann Pick Disease, Type C)
11/2021 - 11/2020
3Disease Progression
11/2021 - 11/2020
3Inborn Genetic Diseases (Disease, Hereditary)
01/2021 - 07/2013
3Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders)
01/2019 - 03/2002
2Movement Disorders (Movement Disorder)
12/2023 - 03/2010
2Ornithine Carbamoyltransferase Deficiency Disease
12/2023 - 09/2023
2Inborn Urea Cycle Disorders
09/2023 - 03/2022
2Argininosuccinic Aciduria
01/2023 - 01/2017
2Mitochondrial Diseases (Mitochondrial Disease)
06/2021 - 12/2018
2Cardiomyopathies (Cardiomyopathy)
01/2021 - 01/2019
2Hypoglycemia (Reactive Hypoglycemia)
09/2020 - 01/2019
2Methylmalonic acidemia
01/2019 - 12/2018
2Congenital disorder of glycosylation type II
06/2016 - 04/2014
2Intellectual Disability (Idiocy)
04/2014 - 03/2010
1Galactosemias (Galactosemia)
01/2024
1Respiratory Insufficiency (Respiratory Failure)
07/2023
1Chronic Renal Insufficiency
01/2023
1Autism Spectrum Disorder
01/2023
1Language Development Disorders (Semantic-Pragmatic Disorder)
01/2023
1Carbamoyl-Phosphate Synthase I Deficiency Disease
03/2022
1Infections
01/2022
1Fructose Intolerance (Intolerance, Fructose)
01/2022
1Hyperammonemia
01/2021
1Glycogen Storage Disease XIV
01/2021
1Pancreatitis
01/2021
1Hepatomegaly
01/2021
1Cardiac Arrhythmias (Arrythmia)
01/2021
1Neurodegenerative Diseases (Neurodegenerative Disease)
11/2020
1Spasm (Spasms)
11/2020
1Diarrhea
09/2020
1Lactose Intolerance (Intolerance, Lactose)
09/2020
1Liver Failure
09/2020
1Cleft Palate (Palate, Cleft)
09/2020
1Imerslund-Grasbeck syndrome
09/2019
1Proteinuria
09/2019
1Megaloblastic Anemia
09/2019
1Lethargy
09/2019
1Rhabdomyolysis
01/2019
1Metabolic Diseases (Metabolic Disease)
01/2019
1Sialorrhea
12/2017
1Deglutition Disorders (Dysphagia)
01/2017
1Atrophy
01/2017
1Glycogen Storage Disease Type II (Pompe's Disease)
01/2017
1Retinal Dystrophies
01/2017
1Infarction (Infarctions)
01/2017

Drug/Important Bio-Agent (IBA)

7Proteins (Proteins, Gene)FDA Link
01/2021 - 04/2006
4Biomarkers (Surrogate Marker)IBA
06/2021 - 12/2015
4LipidsIBA
11/2020 - 04/2014
3AmmoniaIBA
09/2023 - 01/2017
3Glycoproteins (Glycoprotein)IBA
06/2016 - 11/2002
2Galactose (Galactopyranose)FDA LinkGeneric
01/2024 - 09/2020
2glycerol phenylbutyrateIBA
09/2023 - 03/2022
2Polysaccharides (Glycans)IBA
01/2022 - 07/2013
2EnzymesIBA
01/2021 - 01/2017
2Fatty Acids (Saturated Fatty Acids)IBA
01/2021 - 01/2019
2Methylmalonyl-CoA MutaseIBA
01/2019 - 12/2018
2Retinaldehyde (Retinal)IBA
01/2017 - 06/2012
2Transferrin (beta 2 Transferrin)IBA
04/2014 - 04/2006
1CatecholaminesIBA
12/2023
1LyasesIBA
09/2023
1Carbamyl Phosphate (Carbamoyl Phosphate)IBA
09/2023
1SodiumIBA
09/2023
1Ligases (Synthetase)IBA
09/2023
1Methylenetetrahydrofolate Reductase (NADPH2) (Methylenetetrahydrofolate Reductase)IBA
07/2023
1HomocysteineIBA
07/2023
1Arginine (L-Arginine)FDA Link
01/2023
1Dopamine (Intropin)FDA LinkGeneric
01/2023
1Nitric Oxide (Nitrogen Monoxide)FDA Link
01/2023
1Urea (Carbamide)FDA LinkGeneric
01/2023
1Sodium BenzoateFDA Link
03/2022
1remdesivirIBA
01/2022
1Mannose (D-Mannose)IBA
01/2022
1arimoclomolIBA
11/2021
1triheptanoinIBA
01/2021
1GlycogenIBA
01/2021
1Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)IBA
01/2021
1PhosphoglucomutaseIBA
01/2021
1Clobazam (HR 376)IBA
11/2020
1Felbamate (Felbatol)FDA Link
11/2020
1Adrenocorticotropic Hormone (ACTH)FDA Link
11/2020
1Prednisolone (Predate)FDA LinkGeneric
11/2020
1Transaminases (Aminotransferases)IBA
09/2020
1HydroxocobalaminFDA Link
09/2019
1Blood Proteins (Serum Proteins)IBA
09/2019
1Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric
09/2019
1UDP-galactose translocatorIBA
01/2019
1fibroblast growth factor 21IBA
12/2018
1alpha-Glucosidases (Acid Maltase)IBA
01/2017
1CreatineIBA
01/2017
1SteroidsIBA
01/2017
1AcidsIBA
01/2017

Therapy/Procedure

3Therapeutics
12/2023 - 01/2017
1Liver Transplantation
12/2023
1Renal Replacement Therapy (Therapies, Renal Replacement)
01/2023
1Transplantation
01/2023
1Pancreatectomy
01/2021
1Cochlear Implants (Cochlear Implant)
12/2017
1Hearing Aids (Hearing Aid)
12/2017