Stephanie Grünewald Selected Research

Congenital Disorders of Glycosylation

12/2011	Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation.
9/2009	The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia).
7/2009	Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies.
2/2007	Transferrin and apolipoprotein C-III isofocusing are complementary in the diagnosis of N- and O-glycan biosynthesis defects.
12/2005	Patients with unsolved congenital disorders of glycosylation type II can be subdivided in six distinct biochemical groups.
11/2003	Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis.

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Stephanie Grünewald Research Topics

Disease

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

Drug/Important Bio-Agent (IBA)

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

Therapy/Procedure

1	Therapeutics 01/2018
1	Liver Transplantation 01/2018