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D J Lefeber Selected Research

Ferritins (Ferritin)

4/2007Congenital disorder of glycosylation type Ia presenting with hydrops fetalis.

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D J Lefeber Research Topics

Disease

4Congenital Disorders of Glycosylation
05/2019 - 06/2011
3Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy)
05/2024 - 11/2017
3Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders)
05/2019 - 12/2008
2Muscular Dystrophies (Muscular Dystrophy)
05/2024 - 11/2017
2Thrombosis (Thrombus)
01/2016 - 05/2013
2Epilepsy (Aura)
06/2011 - 12/2009
2Sandhoff Disease (Sandhoff's Disease)
09/2010 - 12/2009
2Ataxia (Dyssynergia)
12/2009 - 10/2007
1Type 2I Limb-Girdle Muscular Dystrophy
05/2024
1Congenital disorder of glycosylation type II
05/2019
1Glycogen Storage Disease XIV
04/2017
1Glycogen Storage Disease (Glycogenosis)
04/2017
1Thrombophilia
01/2016
1Sudden Hearing Loss (Sudden Deafness)
06/2011
1Dilated Cardiomyopathy (Cardiomyopathy, Congestive)
06/2011
1Sensorineural Hearing Loss
06/2011
1Cardiac Sudden Death (Sudden Cardiac Arrest)
06/2011
1Intellectual Disability (Idiocy)
06/2011
1Cutis Laxa
06/2011
1Mucopolysaccharidoses
08/2010
1Mucopolysaccharidosis III (Sanfilippo Syndrome)
08/2010
1Multiple Sclerosis
05/2010
1Nonaka type Distal myopathy
03/2010
1Gaucher Disease (Gaucher's Disease)
12/2009
1Lysosomal Storage Diseases (Lysosomal Storage Disease)
12/2009
1Disease Progression
12/2009
1Coloboma (Colobomas)
03/2009
1Glaucoma
03/2009
1Cataract (Cataracts)
03/2009
1Venous Thrombosis (Deep-Vein Thrombosis)
12/2008
1Virus Diseases (Viral Diseases)
12/2008
1Embolism (Embolus)
12/2008
1Arthrogryposis
06/2008
1Fructose Intolerance (Intolerance, Fructose)
06/2007
1Hydrops Fetalis (Fetal Edema)
04/2007
1Thrombocytopenia (Thrombopenia)
04/2007

Drug/Important Bio-Agent (IBA)

3Transferrin (beta 2 Transferrin)IBA
01/2016 - 06/2007
2Dystroglycans (Dystroglycan)IBA
01/2018 - 11/2017
2Proteins (Proteins, Gene)FDA Link
04/2017 - 05/2013
2Congenital disorder of glycosylation type 1AIBA
05/2013 - 04/2007
2Hexosaminidases (Hexosaminidase)IBA
08/2010 - 12/2009
1Ribose (D-Ribose)IBA
05/2024
1RibitolIBA
05/2024
1Polysaccharides (Glycans)IBA
05/2019
1Galactose (Galactopyranose)FDA LinkGeneric
04/2017
1PhosphoglucomutaseIBA
04/2017
1Glycoproteins (Glycoprotein)IBA
01/2016
1AntithrombinsIBA
01/2016
1Protein SIBA
05/2013
1Antithrombin IIIIBA
05/2013
1Factor IX (Coagulation Factor IX)FDA LinkGeneric
05/2013
1Factor XI (Plasma Thromboplastin Antecedent)IBA
05/2013
1Protein CIBA
05/2013
1CopperIBA
06/2011
1Adenosine Triphosphatases (ATPase)IBA
06/2011
1IronIBA
06/2011
1LipidsIBA
09/2010
1GangliosidesIBA
09/2010
1alpha-N-acetyl-D-glucosaminidase (alpha-N-acetylglucosaminidase)IBA
08/2010
1chitotriosidaseIBA
05/2010
1LectinsIBA
03/2010
1miglustat (Zavesca)FDA Link
12/2009
1Retinaldehyde (Retinal)IBA
03/2009
1Mannose (D-Mannose)IBA
12/2008
1Creatine Kinase (Creatine Phosphokinase)IBA
06/2008
1phosphomannomutaseIBA
10/2007
1Fructose-Bisphosphate Aldolase (Aldolase)IBA
06/2007
1Ferritins (Ferritin)IBA
04/2007

Therapy/Procedure

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