Stephanie Grunewald Selected Research

Stephanie Grunewald Research Topics

Disease

6	Congenital Disorders of Glycosylation 06/2016 - 03/2002
3	Type C Niemann-Pick Disease (Niemann Pick Disease, Type C) 11/2021 - 11/2020
3	Disease Progression 11/2021 - 11/2020
3	Inborn Genetic Diseases (Disease, Hereditary) 01/2021 - 07/2013
3	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2019 - 03/2002
2	Mitochondrial Diseases (Mitochondrial Disease) 06/2021 - 12/2018
2	Rhabdomyolysis 01/2021 - 01/2019
2	Cardiomyopathies (Cardiomyopathy) 01/2021 - 01/2019
2	Epilepsy (Aura) 11/2020 - 03/2010
2	Hypoglycemia (Reactive Hypoglycemia) 09/2020 - 01/2019
2	Methylmalonic acidemia 01/2019 - 12/2018
2	Congenital disorder of glycosylation type II 06/2016 - 04/2014
2	Intellectual Disability (Idiocy) 04/2014 - 03/2010
1	Carbamoyl-Phosphate Synthase I Deficiency Disease 03/2022
1	Inborn Urea Cycle Disorders 03/2022
1	Fructose Intolerance (Intolerance, Fructose) 01/2022
1	Infections 01/2022
1	Ileus 01/2021
1	Pancreatitis 01/2021
1	Diverticulitis 01/2021
1	Glycogen Storage Disease XIV 01/2021
1	Hepatomegaly 01/2021
1	Hyperammonemia 01/2021
1	Cardiac Arrhythmias (Arrythmia) 01/2021
1	Neurodegenerative Diseases (Neurodegenerative Disease) 11/2020
1	Spasm (Spasms) 11/2020
1	Cleft Palate (Palate, Cleft) 09/2020
1	Lactose Intolerance (Intolerance, Lactose) 09/2020
1	Diarrhea 09/2020
1	Liver Failure 09/2020
1	Proteinuria 09/2019
1	Imerslund-Grasbeck syndrome 09/2019
1	Megaloblastic Anemia 09/2019
1	Lethargy 09/2019
1	Metabolic Diseases (Metabolic Disease) 01/2019
1	Sialorrhea 12/2017
1	Retinal Dystrophies 01/2017
1	Argininosuccinic Aciduria 01/2017
1	Infarction (Infarctions) 01/2017
1	Glycogen Storage Disease Type II (Pompe's Disease) 01/2017
1	Atrophy 01/2017
1	Deglutition Disorders (Dysphagia) 01/2017
1	Muscular Dystrophies (Muscular Dystrophy) 06/2016
1	Mucopolysaccharidoses 12/2015
1	Seizures (Absence Seizure) 06/2012
1	Vision Disorders (Hemeralopia) 06/2012
1	Hyperkalemia 06/2012
1	Hemolysis 06/2012
1	Cataract (Cataracts) 06/2012
1	Pontocerebellar Hypoplasia Type 6 05/2012
1	Lactic Acidosis 05/2012

Drug/Important Bio-Agent (IBA)

7	Proteins (Proteins, Gene)FDA Link 01/2021 - 04/2006
4	Biomarkers (Surrogate Marker)IBA 06/2021 - 12/2015
4	LipidsIBA 11/2020 - 04/2014
3	Glycoproteins (Glycoprotein)IBA 06/2016 - 11/2002
2	AmmoniaIBA 03/2022 - 01/2017
2	Polysaccharides (Glycans)IBA 01/2022 - 07/2013
2	EnzymesIBA 01/2021 - 01/2017
2	Fatty Acids (Saturated Fatty Acids)IBA 01/2021 - 01/2019
2	Methylmalonyl-CoA MutaseIBA 01/2019 - 12/2018
2	Retinaldehyde (Retinal)IBA 01/2017 - 06/2012
2	Transferrin (beta 2 Transferrin)IBA 04/2014 - 04/2006
1	glycerol phenylbutyrateIBA 03/2022
1	Sodium Benzoate FDA Link 03/2022
1	remdesivirIBA 01/2022
1	Mannose (D-Mannose)IBA 01/2022
1	arimoclomolIBA 11/2021
1	Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)IBA 01/2021
1	Pharmaceutical PreparationsIBA 01/2021
1	PhosphoglucomutaseIBA 01/2021
1	triheptanoinIBA 01/2021
1	GlycogenIBA 01/2021
1	Adrenocorticotropic Hormone (ACTH)FDA Link 11/2020
1	Clobazam (HR 376)IBA 11/2020
1	Felbamate (Felbatol)FDA Link 11/2020
1	Prednisolone (Predate)FDA LinkGeneric 11/2020
1	Transaminases (Aminotransferases)IBA 09/2020
1	Galactose (Galactopyranose)FDA LinkGeneric 09/2020
1	Hydroxocobalamin FDA Link 09/2019
1	Blood Proteins (Serum Proteins)IBA 09/2019
1	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 09/2019
1	UDP-galactose translocatorIBA 01/2019
1	fibroblast growth factor 21IBA 12/2018
1	alpha-Glucosidases (Acid Maltase)IBA 01/2017
1	AcidsIBA 01/2017
1	SteroidsIBA 01/2017
1	CreatineIBA 01/2017
1	Congenital disorder of glycosylation type 1AIBA 06/2016
1	Ceruloplasmin (Ferroxidase)IBA 06/2016
1	GlycosaminoglycansIBA 12/2015
1	PotassiumIBA 06/2012
1	CationsIBA 06/2012
1	Amino Acyl-tRNA Synthetases (Aminoacyl-tRNA Synthetase)IBA 05/2012
1	mitochondrial messenger RNAIBA 05/2012
1	Transfer RNA (tRNA)IBA 05/2012
1	Arginine-tRNA LigaseIBA 05/2012

Therapy/Procedure

1	Pancreatectomy 01/2021
1	Hearing Aids (Hearing Aid) 12/2017
1	Cochlear Implants (Cochlear Implant) 12/2017
1	Therapeutics 01/2017