Hans-Georg Koch Selected Research

Congenital disorder of glycosylation type 1D

5/2004

An activated 5' cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id).

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Hans-Georg Koch Research Topics

Disease

1	Neoplasms (Cancer) 11/2021
1	Infections 01/2017
1	Carcinogenesis 01/2016
1	Burns 08/2014
1	Wounds and Injuries (Trauma) 08/2014
1	Mitochondrial Diseases (Mitochondrial Disease) 01/2014
1	Propionic Acidemia 01/2013
1	Asymptomatic Diseases 08/2006
1	Cystic Fibrosis (Mucoviscidosis) 01/2006
1	Hemolysis 01/2006
1	isovaleric Acidemia 12/2004
1	Fabry Disease (Fabry's Disease) 09/2004
1	Congenital disorder of glycosylation type 1D 05/2004
1	HELLP Syndrome 02/2004
1	Pre-Eclampsia (Preeclampsia) 02/2004
1	Farber Lipogranulomatosis 01/2004
1	Argininosuccinic Aciduria 06/2003

Drug/Important Bio-Agent (IBA)

2	Adenosine Triphosphatases (ATPase)IBA 11/2021 - 01/2016
2	C-Reactive ProteinIBA 01/2017 - 08/2014
2	EnzymesIBA 09/2004 - 02/2004
1	Proteins (Proteins, Gene)FDA Link 08/2014
1	Acute-Phase Proteins (Acute-Phase Protein)IBA 08/2014
1	CopperIBA 01/2014
1	Oxidoreductases (Dehydrogenase)IBA 01/2014
1	Cytochromes c (Cytochrome c)IBA 01/2014
1	Propionyl-Coenzyme A Carboxylase (Propionyl CoA Carboxylase)IBA 01/2013
1	methylcyanocarbamate dimerIBA 08/2006
1	GD3 ganglioside (GD(3))IBA 01/2006
1	Adenosine Triphosphate (ATP)IBA 01/2006
1	Apyrase (ATP Diphosphatase)IBA 01/2006
1	BuffersIBA 01/2006
1	ChloridesIBA 01/2006
1	Potassium Channel Blockers (Blockers, Potassium Channel)IBA 01/2006
1	Leucine (L-Leucine)FDA Link 12/2004
1	alpha-Galactosidase (Beano)IBA 09/2004
1	MannosyltransferasesIBA 05/2004
1	Nonsense Codon (Nonsense Mutation)IBA 05/2004
1	RNA Splice SitesIBA 05/2004
1	mannosyl(5)-N-acetyl(2)-glucoseIBA 05/2004
1	DNA (Deoxyribonucleic Acid)IBA 02/2004
1	CitrullineIBA 06/2003

Therapy/Procedure

1	Therapeutics 09/2004
1	Enzyme Replacement Therapy 09/2004
1	Renal Dialysis (Hemodialysis) 09/2004
1	Transplantation 01/2004
1	Hematopoietic Stem Cell Transplantation 01/2004