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

10	Type C Niemann-Pick Disease (Niemann Pick Disease, Type C) 02/2024 - 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	Metabolic Diseases (Metabolic Disease) 01/2024 - 01/2018
4	Glycogen Storage Disease Type II (Pompe's Disease) 08/2023 - 01/2015
4	Cystinosis 06/2023 - 09/2020
4	Mitochondrial Diseases (Mitochondrial Disease) 01/2023 - 04/2014
4	Glycogen Storage Disease XIV 01/2019 - 03/2017
3	Seizures (Absence Seizure) 04/2024 - 01/2021
3	Inflammation (Inflammations) 03/2024 - 01/2022
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	Intellectual Disability (Idiocy) 04/2024 - 12/2020
2	Atrophy 04/2024 - 01/2024
2	Disease Progression 08/2023 - 02/2017
2	Cardiomyopathies (Cardiomyopathy) 08/2023 - 01/2021
2	Crohn Disease (Crohn's Disease) 01/2022 - 01/2017
2	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 01/2021 - 10/2002
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	Muscle Hypotonia (Hypotonia) 04/2024
1	Astigmatism 04/2024
1	Optic Atrophy 04/2024
1	Hyperopia (Hypermetropia) 04/2024
1	Hemolysis 03/2024
1	Vision Disorders (Hemeralopia) 01/2024
1	Cystic Fibrosis (Mucoviscidosis) 08/2023
1	Rheumatoid Arthritis 08/2023
1	Respiratory Insufficiency (Respiratory Failure) 08/2023
1	Type 1 Diabetes Mellitus (Autoimmune Diabetes) 08/2023
1	Halitosis 06/2023
1	Nausea 06/2023
1	Lethargy 06/2023
1	Vomiting 06/2023
1	Medulloblastoma 01/2023
1	Carcinogenesis 01/2023
1	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 01/2023
1	Neoplasms (Cancer) 01/2023
1	Inflammatory Bowel Diseases (Inflammatory Bowel Disease) 01/2022
1	Epilepsy (Aura) 01/2022
1	3-Hydroxyisobutyric aciduria 01/2022
1	Liver Cirrhosis (Hepatic Cirrhosis) 10/2021

Drug/Important Bio-Agent (IBA)

10	Proteins (Proteins, Gene)FDA Link 01/2023 - 08/2003
9	EnzymesIBA 08/2023 - 03/2004
9	Biomarkers (Surrogate Marker)IBA 05/2023 - 01/2014
6	LipidsIBA 01/2018 - 08/2003
5	CholesterolIBA 12/2020 - 01/2016
4	Cystine (L-Cystine)IBA 06/2023 - 09/2020
4	Polysaccharides (Glycans)IBA 03/2017 - 03/2004
4	Transferrin (beta 2 Transferrin)IBA 03/2016 - 09/2014
3	Oxidoreductases (Dehydrogenase)IBA 01/2024 - 11/2004
3	Fatty Acids (Saturated Fatty Acids)IBA 08/2023 - 01/2019
3	Cysteamine (Mercaptamine)FDA Link 06/2023 - 09/2020
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	AcidsIBA 08/2023 - 11/2004
2	GlycogenIBA 08/2023 - 01/2018
2	GlucosidasesIBA 08/2023 - 02/2020
2	miglustat (Zavesca)FDA Link 08/2023 - 06/2015
2	Mitochondrial DNA (mtDNA)IBA 01/2023 - 09/2021
2	Mannose (D-Mannose)IBA 01/2021 - 09/2020
2	Bile Acids and Salts (Bile Acids)IBA 12/2020 - 01/2016
2	SphingolipidsIBA 12/2020 - 01/2014
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	Aconitate Hydratase (Aconitase)IBA 04/2024
1	BilirubinIBA 03/2024
1	Heme (Haem)IBA 03/2024
1	Heme Oxygenase-1IBA 03/2024
1	acetylleucineIBA 02/2024
1	Mitochondrial Trifunctional ProteinIBA 01/2024
1	purineIBA 01/2024
1	AnoctaminsIBA 08/2023
1	Volatile Fatty AcidsIBA 08/2023
1	human GAA protein (Myozyme)FDA Link 08/2023
1	zonulinIBA 05/2023
1	Leukocyte L1 Antigen Complex (Calgranulin)IBA 05/2023
1	LipopolysaccharidesIBA 05/2023
1	Lactic Acid (Lactate)FDA LinkGeneric 01/2023
1	PrionsIBA 01/2023
1	Valine (L-Valine)FDA Link 01/2022
1	3-hydroxyisobutyric acidIBA 01/2022
1	Protein Isoforms (Isoforms)IBA 01/2022
1	HaptoglobinsIBA 10/2021

Therapy/Procedure

12	Therapeutics 08/2023 - 01/2014
3	Enzyme Replacement Therapy 08/2023 - 01/2015
2	Ketogenic Diet 08/2023 - 01/2021
2	Liver Transplantation 02/2016 - 04/2014