D J Lefeber Selected Research

D J Lefeber Research Topics

Disease

4	Congenital Disorders of Glycosylation 05/2019 - 06/2011
3	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 05/2019 - 12/2008
2	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 01/2018 - 11/2017
2	Thrombosis (Thrombus) 01/2016 - 05/2013
2	Epilepsy (Aura) 06/2011 - 12/2009
2	Sandhoff Disease (Sandhoff's Disease) 09/2010 - 12/2009
2	Ataxia (Dyssynergia) 12/2009 - 10/2007
1	Congenital disorder of glycosylation type II 05/2019
1	Muscular Dystrophies (Muscular Dystrophy) 11/2017
1	Glycogen Storage Disease (Glycogenosis) 04/2017
1	Glycogen Storage Disease XIV 04/2017
1	Thrombophilia 01/2016
1	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 06/2011
1	Cutis Laxa 06/2011
1	Sudden Hearing Loss (Sudden Deafness) 06/2011
1	Sensorineural Hearing Loss 06/2011
1	Intellectual Disability (Idiocy) 06/2011
1	Cardiac Sudden Death (Sudden Cardiac Arrest) 06/2011
1	Mucopolysaccharidoses 08/2010
1	Mucopolysaccharidosis III (Sanfilippo Syndrome) 08/2010
1	Multiple Sclerosis 05/2010
1	Nonaka type Distal myopathy 03/2010
1	Gaucher Disease (Gaucher's Disease) 12/2009
1	Lysosomal Storage Diseases (Lysosomal Storage Disease) 12/2009
1	Disease Progression 12/2009
1	Coloboma (Colobomas) 03/2009
1	Glaucoma 03/2009
1	Cataract (Cataracts) 03/2009
1	Embolism (Embolus) 12/2008
1	Virus Diseases (Viral Diseases) 12/2008
1	Venous Thrombosis (Deep-Vein Thrombosis) 12/2008
1	Arthrogryposis 06/2008
1	Fructose Intolerance (Intolerance, Fructose) 06/2007
1	Thrombocytopenia (Thrombopenia) 04/2007
1	Hydrops Fetalis (Fetal Edema) 04/2007

Drug/Important Bio-Agent (IBA)

3	Transferrin (beta 2 Transferrin)IBA 01/2016 - 06/2007
2	Dystroglycans (Dystroglycan)IBA 01/2018 - 11/2017
2	Proteins (Proteins, Gene)FDA Link 04/2017 - 05/2013
2	Congenital disorder of glycosylation type 1AIBA 05/2013 - 04/2007
2	Hexosaminidases (Hexosaminidase)IBA 08/2010 - 12/2009
1	Polysaccharides (Glycans)IBA 05/2019
1	Galactose (Galactopyranose)FDA LinkGeneric 04/2017
1	PhosphoglucomutaseIBA 04/2017
1	AntithrombinsIBA 01/2016
1	Glycoproteins (Glycoprotein)IBA 01/2016
1	Protein SIBA 05/2013
1	Factor XI (Plasma Thromboplastin Antecedent)IBA 05/2013
1	Antithrombin IIIIBA 05/2013
1	Factor IX (Coagulation Factor IX)FDA LinkGeneric 05/2013
1	Protein CIBA 05/2013
1	CopperIBA 06/2011
1	Adenosine Triphosphatases (ATPase)IBA 06/2011
1	IronIBA 06/2011
1	LipidsIBA 09/2010
1	Pharmaceutical PreparationsIBA 09/2010
1	GangliosidesIBA 09/2010
1	alpha-N-acetyl-D-glucosaminidase (alpha-N-acetylglucosaminidase)IBA 08/2010
1	chitotriosidaseIBA 05/2010
1	LectinsIBA 03/2010
1	miglustat (Zavesca)FDA Link 12/2009
1	Retinaldehyde (Retinal)IBA 03/2009
1	Mannose (D-Mannose)IBA 12/2008
1	Creatine Kinase (Creatine Phosphokinase)IBA 06/2008
1	phosphomannomutaseIBA 10/2007
1	Fructose-Bisphosphate Aldolase (Aldolase)IBA 06/2007
1	Ferritins (Ferritin)IBA 04/2007

Therapy/Procedure

1	Elective Surgical Procedures 05/2013
1	Therapeutics 12/2009