J Jaeken Selected Research

Congenital disorder of glycosylation type 2A

12/2001	Modeling human congenital disorder of glycosylation type IIa in the mouse: conservation of asparagine-linked glycan-dependent functions in mammalian physiology and insights into disease pathogenesis.
8/2001	Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complications.

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.

Realize the full power of the drug-disease research graph!

J Jaeken Research Topics

Disease

17	Congenital Disorders of Glycosylation 09/2017 - 06/2000
7	Inborn Genetic Diseases (Disease, Hereditary) 06/2017 - 01/2001
6	Seizures (Absence Seizure) 01/2005 - 09/2000
5	Microcephaly 03/2015 - 12/2000
4	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2015 - 12/2008
2	Mitochondrial Diseases (Mitochondrial Disease) 08/2017 - 01/2001
2	Thrombophilia 01/2016 - 12/2012
2	Thrombosis (Thrombus) 01/2016 - 03/2014
2	Atrophy 03/2015 - 01/2015
2	Glycogen Storage Disease Type II (Pompe's Disease) 05/2012 - 12/2010
2	Congenital disorder of glycosylation type 2A 12/2001 - 08/2001
2	Hemorrhage 09/2001 - 08/2001
1	Fibrosis (Cirrhosis) 01/2019
1	Hepatomegaly 01/2019
1	Inborn Errors Metabolism (Inborn Errors of Metabolism) 09/2017
1	Liver Diseases (Liver Disease) 01/2017
1	Sensorineural Hearing Loss 03/2015
1	Epilepsy (Aura) 03/2015
1	Developmental Disabilities (Developmental Disability) 01/2015
1	Fever (Fevers) 01/2013
1	Hepatolenticular Degeneration (Wilson's Disease) 12/2008
1	Congenital disorder of glycosylation type II 04/2008
1	2-Hydroxyglutaricaciduria 08/2006
1	Gastroesophageal Reflux (GERD) 08/2001
1	Phosphoglycerate Dehydrogenase Deficiency 12/2000
1	Intellectual Disability (Idiocy) 12/2000
1	Infantile Spasms (West Syndrome) 09/2000
1	Congenital disorder of glycosylation type 1C 06/2000
1	Glycogen Storage Disease (Glycogenosis) 04/2000
1	Neoplasms (Cancer) 04/2000
1	Adenoma (Adenomas) 04/2000
1	Body Weight (Weight, Body) 04/2000
1	Cognitive Dysfunction 03/2000
1	Multiple Abnormalities 03/2000
1	Cystinuria 01/2000
1	Phenylketonurias (Phenylketonuria) 01/2000
1	6-pyruvoyl-tetrahydropterin synthase deficiency 01/2000
1	Congenital disorder of glycosylation type 1E 01/2000

Drug/Important Bio-Agent (IBA)

8	Polysaccharides (Glycans)IBA 06/2017 - 06/2000
8	Glycoproteins (Glycoprotein)IBA 01/2016 - 01/2001
5	Proteins (Proteins, Gene)FDA Link 09/2017 - 06/2000
5	Serine (L-Serine)FDA Link 05/2002 - 09/2000
4	Congenital disorder of glycosylation type 1AIBA 01/2017 - 03/2000
4	EnzymesIBA 08/2006 - 01/2001
4	Phosphoglycerate Dehydrogenase (Dehydrogenase, Phosphoglycerate)IBA 05/2002 - 09/2000
3	LipidsIBA 09/2017 - 12/2009
3	GlycoconjugatesIBA 06/2017 - 02/2001
2	AntithrombinsIBA 01/2016 - 12/2012
2	Transferrin (beta 2 Transferrin)IBA 01/2016 - 06/2000
2	GlycolipidsIBA 01/2013 - 09/2012
2	Blood Coagulation Factors (Coagulation Factor)IBA 12/2008 - 08/2001
2	phosphomannomutaseIBA 08/2005 - 08/2001
2	LectinsIBA 12/2001 - 08/2001
1	Transaminases (Aminotransferases)IBA 01/2019
1	Biological ProductsIBA 08/2017
1	Growth Hormone (Somatotropin)IBA 01/2013
1	AcidsIBA 12/2010
1	GlucosidasesIBA 12/2010
1	Ceruloplasmin (Ferroxidase)IBA 12/2008
1	Apolipoprotein C-IIIIBA 04/2008
1	Benzoates (Benzoate)IBA 01/2005
1	Glycine (Aminoacetic Acid)FDA LinkGeneric 01/2005
1	Amino Acids FDA Link 05/2002
1	AsparagineIBA 12/2001
1	GTP-Binding Protein alpha SubunitsIBA 09/2001
1	Neuraminidase (Sialidase)IBA 08/2001
1	CollagenIBA 08/2001
1	beta- 1,3- galactosyl- 0- glycosyl- glycoprotein beta-1,3-N-acetylglucosaminyltransferaseIBA 08/2001
1	Galactose (Galactopyranose)FDA LinkGeneric 08/2001
1	Mitochondrial DNA (mtDNA)IBA 01/2001
1	Starch (Cornstarch)IBA 04/2000
1	Granulocyte Colony-Stimulating Factor (G-CSF)IBA 04/2000
1	Mannose (D-Mannose)IBA 01/2000
1	Amino Acid Transport Systems (Amino Acid Transporter)IBA 01/2000
1	Phosphates (Orthophosphate)IBA 01/2000
1	DolicholsIBA 01/2000
1	6-pyruvoyltetrahydropterin synthase (PTPS)IBA 01/2000
1	Neurotransmitter Agents (Neurotransmitter)IBA 01/2000

Therapy/Procedure

2	Enzyme Therapy 05/2012 - 12/2010
1	Therapeutics 03/2015
1	Surgical Portacaval Shunt (Portacaval Anastomosis) 04/2000
1	Liver Transplantation 04/2000