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Stephanie Grünewald Selected Research

Stephanie Grünewald Research Topics

Disease

6Congenital Disorders of Glycosylation
12/2011 - 11/2003
4Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders)
05/2023 - 06/2012
2Galactosemias (Galactosemia)
01/2022 - 01/2017
2Propionic Acidemia
11/2015 - 09/2014
2Cutis Laxa
06/2005 - 04/2005
1Hyperinsulinism (Hyperinsulinemia)
05/2023
1Polycystic Kidney Diseases (Polycystic Kidney Disease)
05/2023
1Hyperplasia
05/2023
1Inflammatory Bowel Diseases (Inflammatory Bowel Disease)
05/2023
1Inflammation (Inflammations)
05/2023
1Nonketotic Hyperglycinemia
01/2023
1Methylenetetrahydrofolate reductase deficiency
01/2019
1Hyperammonemia
01/2018
1Citrullinemia
01/2018
1Ornithine Carbamoyltransferase Deficiency Disease
11/2015
1Atrophy
11/2015
1Megalencephaly
11/2015
1Methylmalonic acidemia
11/2015
1Argininosuccinic Aciduria
11/2015
1Cardiomyopathies (Cardiomyopathy)
11/2015
1Pancytopenia
11/2015
1Inborn Errors Metabolism (Inborn Errors of Metabolism)
09/2014
1Retinitis Pigmentosa (Pigmentary Retinopathy)
11/2013
1Dilated Cardiomyopathy (Cardiomyopathy, Congestive)
12/2011
1Muscular Dystrophies (Muscular Dystrophy)
07/2009
1Walker-Warburg Syndrome
07/2009
1Inborn Genetic Diseases (Disease, Hereditary)
12/2007
1Hemolytic-Uremic Syndrome
02/2007
1recessive Cutis laxa
06/2005
1Hematuria
08/2002
1Neurologic Manifestations (Neurological Manifestations)
08/2002
1Hemolysis
08/2002
1Proteinuria
08/2002
1Thrombotic Microangiopathies
08/2002

Drug/Important Bio-Agent (IBA)

3Congenital disorder of glycosylation type 1AIBA
05/2023 - 06/2012
3phosphomannomutaseIBA
05/2023 - 06/2012
3Proteins (Proteins, Gene)FDA Link
01/2023 - 06/2005
3Retinaldehyde (Retinal)IBA
11/2013 - 08/2002
3Apolipoprotein C-IIIIBA
02/2007 - 11/2003
2Galactose (Galactopyranose)FDA LinkGeneric
01/2022 - 01/2017
2Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric
01/2019 - 08/2002
2Dystroglycans (Dystroglycan)IBA
12/2011 - 07/2009
2Polysaccharides (Glycans)IBA
02/2007 - 06/2005
2Transferrin (beta 2 Transferrin)IBA
12/2005 - 04/2005
1AntralIBA
05/2023
1galactose epimeraseIBA
01/2022
1Ligases (Synthetase)IBA
11/2015
1LyasesIBA
11/2015
1Argininosuccinate LyaseIBA
11/2015
1Ornithine Carbamoyltransferase (Ornithine Transcarbamylase)IBA
11/2015
1Methylmalonic AcidIBA
09/2014
1propionic acid (potassium propionate)IBA
09/2014
1Propionyl-Coenzyme A Carboxylase (Propionyl CoA Carboxylase)IBA
09/2014
1Methylmalonyl-CoA MutaseIBA
09/2014
1GlycoconjugatesIBA
09/2009
1dolichyl-phosphate beta-D-mannosyltransferaseIBA
07/2009
1DolicholsIBA
07/2009
1Mannose (D-Mannose)IBA
07/2009
1Phosphates (Orthophosphate)IBA
07/2009
1Glycoproteins (Glycoprotein)IBA
12/2007
1Protein Isoforms (Isoforms)IBA
02/2007
1SodiumIBA
12/2005
1polyacrylamideIBA
12/2005
1DNA (Deoxyribonucleic Acid)IBA
06/2005
1CreatinineIBA
08/2002

Therapy/Procedure

1Therapeutics
01/2018
1Liver Transplantation
01/2018