F A Wijburg Selected Research

Anemia

11/2012

Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients.

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F A Wijburg Research Topics

Disease

6	Fabry Disease (Fabry's Disease) 01/2022 - 02/2010
6	Mucopolysaccharidosis III (Sanfilippo Syndrome) 01/2018 - 02/2008
4	VLCAD deficiency 08/2009 - 01/2004
3	Gaucher Disease (Gaucher's Disease) 01/2018 - 01/2005
3	Mucopolysaccharidosis I (Hurler Syndrome) 11/2007 - 07/2006
2	Type A Niemann-Pick Disease 01/2018 - 11/2012
2	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2018 - 01/2017
2	Niemann-Pick Diseases (Niemann Pick Disease) 01/2018 - 11/2012
2	Type B Niemann-Pick Disease 11/2012 - 01/2005
2	Trifunctional Protein Deficiency With Myopathy And Neuropathy 08/2009 - 08/2000
2	Homocystinuria 12/2008 - 11/2007
2	Mucopolysaccharidoses 04/2008 - 02/2008
1	Disease Progression 01/2022
1	Albuminuria 01/2022
1	Smith-Magenis Syndrome 01/2021
1	Attention Deficit Disorder with Hyperactivity (Attention Deficit Hyperactivity Disorder) 01/2021
1	Lysosomal Storage Diseases (Lysosomal Storage Disease) 01/2018
1	Sphingolipidoses (Sphingolipidosis) 01/2018
1	Lipidoses 01/2018
1	Metabolic Diseases (Metabolic Disease) 01/2018
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2016
1	Thrombocytopenia (Thrombopenia) 11/2012
1	Lung Diseases (Lung Disease) 11/2012
1	Anemia 11/2012
1	Type C Niemann-Pick Disease (Niemann Pick Disease, Type C) 05/2012
1	Left Ventricular Hypertrophy (Ventricular Hypertrophy, Left) 09/2010
1	Hypertrophy 02/2010
1	Vascular Diseases (Vascular Disease) 02/2010
1	Chronic Disease (Chronic Diseases) 12/2009
1	Pain (Aches) 08/2009
1	Muscle Weakness 08/2009
1	Hypoxia (Hypoxemia) 04/2009
1	Arteriosclerosis 12/2008
1	Thrombosis (Thrombus) 12/2008
1	Hypersensitivity (Allergy) 11/2007
1	Body Weight (Weight, Body) 11/2007
1	Birth Weight (Birth Weights) 11/2007
1	Hyperlipoproteinemia Type II (Familial Hypercholesterolemia) 08/2007
1	Phenylketonurias (Phenylketonuria) 02/2007
1	Liver Neoplasms (Liver Cancer) 12/2006
1	Medium chain acyl CoA dehydrogenase deficiency 10/2006
1	Ornithine Carbamoyltransferase Deficiency Disease 01/2006
1	Short chain Acyl CoA dehydrogenase deficiency 01/2005
1	Muscular Diseases (Myopathy) 03/2004
1	Pregnancy Complications 01/2003
1	Apraxias (Dyspraxia) 12/2002
1	Hypogonadism (Hypergonadotropic Hypogonadism) 12/2002
1	Galactosemias (Galactosemia) 12/2002

Drug/Important Bio-Agent (IBA)

11	EnzymesIBA 01/2018 - 08/2000
5	Heparitin Sulfate (Heparan Sulfate)IBA 01/2018 - 04/2008
4	Fatty Acids (Saturated Fatty Acids)IBA 04/2009 - 08/2000
3	alpha-N-acetyl-D-glucosaminidase (alpha-N-acetylglucosaminidase)IBA 01/2018 - 01/2016
3	Hexosaminidases (Hexosaminidase)IBA 01/2018 - 01/2016
3	LipidsIBA 01/2018 - 01/2005
3	Long-Chain Acyl-CoA Dehydrogenase (Long-Chain-Acyl-Coenzyme A Dehydrogenase)IBA 08/2009 - 03/2004
3	Glucose (Dextrose)FDA LinkGeneric 10/2006 - 03/2001
2	globotriaosyl lysosphingolipidIBA 01/2018 - 09/2010
2	chitotriosidaseIBA 01/2018 - 01/2005
2	Biomarkers (Surrogate Marker)IBA 01/2018 - 01/2005
2	GlycosaminoglycansIBA 03/2013 - 04/2008
2	neodymium pyrocatechin disulfonate (NPD)IBA 11/2012 - 01/2005
2	Sphingomyelin Phosphodiesterase (Sphingomyelinase)IBA 11/2012 - 01/2005
2	AcidsIBA 11/2012 - 01/2005
2	alpha-Galactosidase (Beano)IBA 09/2010 - 02/2010
2	3-Hydroxyacyl-CoA DehydrogenaseIBA 08/2009 - 08/2000
2	Carnitine (L-Carnitine)FDA LinkGeneric 08/2009 - 10/2006
2	Methionine (L-Methionine)FDA Link 12/2008 - 11/2007
2	Iduronidase (alpha-L-Iduronidase)IBA 11/2007 - 02/2007
1	AlbuminsIBA 01/2022
1	CreatinineIBA 01/2022
1	Methylphenidate (Ritalin)FDA LinkGeneric 01/2021
1	SphingolipidsIBA 01/2018
1	globotriaosylceramide (globotriosylceramide)IBA 09/2010
1	GlycosphingolipidsIBA 02/2010
1	Mitochondrial Trifunctional ProteinIBA 08/2009
1	AMP-Activated Protein KinasesIBA 04/2009
1	AICA ribonucleotide (ZMP)IBA 04/2009
1	Cysteine (L-Cysteine)FDA Link 12/2008
1	HomocysteineIBA 12/2008
1	CystathionineIBA 12/2008
1	Glutathione (Reduced Glutathione)IBA 12/2008
1	glucosamine acetyltransferaseIBA 02/2008
1	Amino Acids FDA Link 11/2007
1	AntibodiesIBA 11/2007
1	Hydroxymethylglutaryl-CoA Reductase Inhibitors (HMG-CoA Reductase Inhibitors)IBA 08/2007
1	Phenylalanine (L-Phenylalanine)FDA Link 02/2007
1	Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA 02/2007
1	alpha-Fetoproteins (alpha-Fetoprotein)IBA 12/2006
1	Indicators and Reagents (Reagents)IBA 12/2006
1	pyrimidineIBA 01/2006
1	Butyryl-CoA Dehydrogenase (Short-Chain Acyl-CoA Dehydrogenase)IBA 01/2005
1	SphingomyelinsIBA 01/2005
1	Mitochondrial DNA (mtDNA)IBA 01/2004
1	UTP-Hexose-1-Phosphate Uridylyltransferase (UTP Hexose 1 Phosphate Uridylyltransferase)IBA 12/2002
1	Galactose (Galactopyranose)FDA LinkGeneric 12/2002

Therapy/Procedure

7	Enzyme Replacement Therapy 01/2022 - 07/2006
4	Therapeutics 02/2013 - 08/2007
2	Diet Therapy (Therapy, Diet) 12/2009 - 08/2009
1	Parenteral Nutrition 11/2007
1	Cell Transplantation 07/2006