G Matthijs Selected Research

Congenital disorder of glycosylation type 1E

1/2000

Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie.

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G Matthijs Research Topics

Disease

13	Congenital Disorders of Glycosylation 01/2015 - 09/2000
5	Inborn Genetic Diseases (Disease, Hereditary) 01/2015 - 01/2001
2	Epilepsy (Aura) 03/2015 - 06/2011
2	Atrophy 03/2015 - 01/2015
2	Sensorineural Hearing Loss 03/2015 - 06/2011
2	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2015 - 01/2011
1	Microcephaly 03/2015
1	Developmental Disabilities (Developmental Disability) 01/2015
1	Fever (Fevers) 01/2013
1	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 06/2011
1	Cardiac Sudden Death (Sudden Cardiac Arrest) 06/2011
1	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 06/2011
1	Cutis Laxa 06/2011
1	Sudden Hearing Loss (Sudden Deafness) 06/2011
1	Intellectual Disability (Idiocy) 06/2011
1	Ataxia (Dyssynergia) 10/2007
1	Hydrops Fetalis (Fetal Edema) 04/2007
1	Thrombocytopenia (Thrombopenia) 04/2007
1	Dystonia (Limb Dystonia) 01/2006
1	Tendinopathy (Tendonitis) 01/2006
1	Channelopathies 05/2005
1	Cardiac Conduction System Disease 05/2005
1	Brugada Syndrome 05/2005
1	Long QT Syndrome 05/2005
1	Hyperplasia 01/2005
1	Type B Niemann-Pick Disease 04/2002
1	Hemochromatosis (Bronze Diabetes) 03/2002
1	Congenital disorder of glycosylation type 1C 06/2000
1	Congenital disorder of glycosylation type 1E 01/2000

Drug/Important Bio-Agent (IBA)

4	Polysaccharides (Glycans)IBA 12/2009 - 06/2000
3	Congenital disorder of glycosylation type 1AIBA 01/2015 - 04/2007
3	Glycoproteins (Glycoprotein)IBA 09/2012 - 01/2001
3	LipidsIBA 01/2011 - 04/2002
3	Proteins (Proteins, Gene)FDA Link 01/2011 - 06/2001
2	IronIBA 06/2011 - 03/2002
2	phosphomannomutaseIBA 10/2007 - 08/2005
1	SugarsIBA 01/2015
1	Glycoside Hydrolases (Endoglycosidases)IBA 01/2015
1	GlycosyltransferasesIBA 01/2015
1	NucleotidesIBA 01/2015
1	Growth Hormone (Somatotropin)IBA 01/2013
1	GlycolipidsIBA 09/2012
1	Ataxin-2IBA 06/2011
1	Adenosine Triphosphatases (ATPase)IBA 06/2011
1	CopperIBA 06/2011
1	Transferrin (beta 2 Transferrin)IBA 10/2007
1	Ferritins (Ferritin)IBA 04/2007
1	Levodopa (L Dopa)FDA LinkGeneric 01/2006
1	GTP Cyclohydrolase (GTP Cyclohydrolase I)IBA 01/2006
1	Dihydroxyphenylalanine (Dopa)IBA 01/2006
1	Sodium Channels (Sodium Channel)IBA 05/2005
1	SodiumIBA 05/2005
1	EnzymesIBA 04/2002
1	Sphingomyelin Phosphodiesterase (Sphingomyelinase)IBA 04/2002
1	GlycoconjugatesIBA 02/2001
1	Mannose-6-Phosphate Isomerase (Mannose 6 Phosphate Isomerase)IBA 09/2000
1	Mannose (D-Mannose)IBA 01/2000
1	DolicholsIBA 01/2000
1	Phosphates (Orthophosphate)IBA 01/2000

Therapy/Procedure

1	Therapeutics 03/2015
1	Thyroidectomy 01/2005