Thorsten Marquardt Selected Research

Congenital disorder of glycosylation type 1D

8/2005	Congenital disorder of glycosylation type Id: clinical phenotype, molecular analysis, prenatal diagnosis, and glycosylation of fetal proteins.
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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Thorsten Marquardt Research Topics

Disease

9	Type C Niemann-Pick Disease (Niemann Pick Disease, Type C) 01/2022 - 01/2014
8	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 12/2020 - 03/2004
7	Congenital Disorders of Glycosylation 01/2015 - 08/2003
4	Glycogen Storage Disease XIV 01/2019 - 03/2017
3	Mitochondrial Diseases (Mitochondrial Disease) 09/2021 - 04/2014
3	Metabolic Diseases (Metabolic Disease) 01/2021 - 01/2018
3	Glycogen Storage Disease Type II (Pompe's Disease) 02/2020 - 01/2015
3	Multiple Acyl Coenzyme A Dehydrogenase Deficiency 09/2019 - 01/2018
3	Alcoholism (Alcohol Abuse) 03/2016 - 09/2014
3	Progeria (Hutchinson Gilford Syndrome) 09/2012 - 01/2005
2	Crohn Disease (Crohn's Disease) 01/2022 - 01/2017
2	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 01/2021 - 10/2002
2	Cystinosis 01/2021 - 09/2020
2	Neurodegenerative Diseases (Neurodegenerative Disease) 12/2020 - 02/2016
2	Glycogen Storage Disease IB 12/2020 - 03/2017
2	Muscular Diseases (Myopathy) 02/2020 - 01/2005
2	Liver Failure 02/2016 - 04/2014
2	Anemia 05/2008 - 12/2003
2	Congenital disorder of glycosylation type 1D 08/2005 - 05/2004
1	Inflammatory Bowel Diseases (Inflammatory Bowel Disease) 01/2022
1	Epilepsy (Aura) 01/2022
1	3-Hydroxyisobutyric aciduria 01/2022
1	Inflammation (Inflammations) 01/2022
1	Liver Cirrhosis (Hepatic Cirrhosis) 10/2021
1	Nerve Degeneration 01/2021
1	Cardiomyopathies (Cardiomyopathy) 01/2021
1	Rare Diseases (Rare Disease) 01/2021
1	Seizures (Absence Seizure) 01/2021
1	Diseases Newborn Infant 01/2021
1	Chronic Kidney Failure (Chronic Renal Failure) 01/2021
1	Intellectual Disability (Idiocy) 12/2020
1	Periodontitis 12/2020
1	Infections 12/2020
1	Skin Diseases (Skin Disease) 12/2020
1	Thrombophilia 09/2020
1	Hypoglycemia (Reactive Hypoglycemia) 09/2020
1	Protein-Losing Enteropathies (Protein-Losing Enteropathy) 09/2020
1	Intracranial Sinus Thrombosis (Sinus Thrombosis) 09/2020
1	Prolidase Deficiency 01/2020
1	Schizophrenia (Dementia Praecox) 01/2020
1	Alkalosis 01/2019
1	Neurologic Manifestations (Neurological Manifestations) 02/2018

Drug/Important Bio-Agent (IBA)

9	Proteins (Proteins, Gene)FDA Link 09/2020 - 08/2003
8	EnzymesIBA 01/2022 - 03/2004
8	Biomarkers (Surrogate Marker)IBA 12/2020 - 01/2014
6	LipidsIBA 01/2018 - 08/2003
5	CholesterolIBA 12/2020 - 01/2016
4	Polysaccharides (Glycans)IBA 03/2017 - 03/2004
4	Transferrin (beta 2 Transferrin)IBA 03/2016 - 09/2014
3	ManganeseIBA 01/2020 - 12/2015
3	carbohydrate-deficient transferrinIBA 03/2016 - 09/2014
3	Lamin Type A (Lamin A)IBA 09/2012 - 01/2005
3	MannosyltransferasesIBA 08/2005 - 03/2004
2	Oxidoreductases (Dehydrogenase)IBA 01/2022 - 11/2004
2	Mannose (D-Mannose)IBA 01/2021 - 09/2020
2	Cysteamine (Mercaptamine)FDA Link 01/2021 - 09/2020
2	Cystine (L-Cystine)IBA 01/2021 - 09/2020
2	SphingolipidsIBA 12/2020 - 01/2014
2	Bile Acids and Salts (Bile Acids)IBA 12/2020 - 01/2016
2	Fatty Acids (Saturated Fatty Acids)IBA 09/2019 - 01/2019
2	PhosphoglucomutaseIBA 01/2018 - 03/2017
2	Galactose (Galactopyranose)FDA LinkGeneric 12/2017 - 03/2017
2	Glucose (Dextrose)FDA LinkGeneric 03/2017 - 01/2016
2	Transaminases (Aminotransferases)IBA 02/2016 - 01/2016
2	Glycoproteins (Glycoprotein)IBA 02/2014 - 10/2013
2	Nonsense Codon (Nonsense Mutation)IBA 10/2013 - 05/2004
2	RNA Splice SitesIBA 09/2012 - 05/2004
1	3-hydroxyisobutyric acidIBA 01/2022
1	Valine (L-Valine)FDA Link 01/2022
1	Protein Isoforms (Isoforms)IBA 01/2022
1	HaptoglobinsIBA 10/2021
1	Mitochondrial DNA (mtDNA)IBA 09/2021
1	ChloridesIBA 01/2021
1	SpectrinIBA 01/2021
1	FucoseIBA 12/2020
1	Glucose-6-PhosphateIBA 12/2020
1	AntithrombinsIBA 09/2020
1	Factor XI (Plasma Thromboplastin Antecedent)IBA 09/2020
1	IsomerasesIBA 09/2020
1	Phosphates (Orthophosphate)IBA 09/2020
1	Antithrombin ProteinsIBA 09/2020
1	GlucosidasesIBA 02/2020
1	AnticoagulantsIBA 01/2020
1	MetalsIBA 01/2020
1	GlycosyltransferasesIBA 01/2020
1	Sulfates (Sulfates, Inorganic)IBA 07/2019
1	KetonesIBA 01/2019
1	SaltsIBA 01/2019
1	Trace Elements (Biometals)IBA 02/2018
1	PhosphatidylglycerolsIBA 01/2018
1	GlycogenIBA 01/2018
1	Ketone BodiesIBA 01/2018

Therapy/Procedure

11	Therapeutics 01/2022 - 01/2014
2	Enzyme Replacement Therapy 02/2017 - 01/2015
2	Liver Transplantation 02/2016 - 04/2014
1	Ketogenic Diet 01/2021
1	Kidney Transplantation 01/2021
1	General Anesthesia 12/2020
1	Decompression 09/2020
1	Thrombectomy 09/2020