A B P van Kuilenburg Selected Research

Sphingolipids

1/2018

Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature.

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A B P van Kuilenburg Research Topics

Disease

8	Dihydropyrimidine Dehydrogenase Deficiency 01/2017 - 01/2003
3	Fabry Disease (Fabry's Disease) 01/2022 - 01/2018
3	Neuroblastoma 01/2019 - 12/2016
2	Metabolic Diseases (Metabolic Disease) 01/2018 - 06/2010
2	Colorectal Neoplasms (Colorectal Cancer) 06/2015 - 04/2002
2	Neoplasms (Cancer) 06/2008 - 10/2004
2	Dihydropyrimidinase Deficiency 06/2008 - 10/2004
1	Mitochondrial Diseases (Mitochondrial Disease) 03/2022
1	Visceral myopathy familial external ophthalmoplegia 03/2022
1	Albuminuria 01/2022
1	Disease Progression 01/2022
1	Niemann-Pick Diseases (Niemann Pick Disease) 01/2018
1	Sphingolipidoses (Sphingolipidosis) 01/2018
1	Gaucher Disease (Gaucher's Disease) 01/2018
1	Type A Niemann-Pick Disease 01/2018
1	Lipidoses 01/2018
1	Lysosomal Storage Diseases (Lysosomal Storage Disease) 01/2018
1	Glycogen Storage Disease Type IV (Andersen's Disease) 09/2016
1	Severe Combined Immunodeficiency (Bare Lymphocyte Syndrome) 06/2010
1	Purine Nucleoside Phosphorylase Deficiency 06/2010
1	Reye Syndrome (Reye's Syndrome) 06/2010
1	Severe combined immunodeficiency due to adenosine deaminase deficiency 06/2010
1	Hematuria 06/2008
1	Ornithine Carbamoyltransferase Deficiency Disease 01/2006
1	Vomiting 01/2006
1	Muscle Hypotonia (Hypotonia) 01/2006

Drug/Important Bio-Agent (IBA)

6	Dihydrouracil Dehydrogenase (NADP) (Dihydropyrimidine Dehydrogenase)IBA 01/2017 - 01/2003
5	pyrimidineIBA 01/2017 - 01/2004
5	Fluorouracil (Carac)FDA LinkGeneric 10/2013 - 04/2002
3	Biomarkers (Surrogate Marker)IBA 01/2018 - 06/2015
3	ThymineIBA 01/2017 - 06/2008
2	CatecholaminesIBA 01/2019 - 01/2018
2	EnzymesIBA 01/2019 - 10/2013
2	chitotriosidaseIBA 01/2018 - 09/2016
2	UracilIBA 01/2017 - 06/2010
2	Capecitabine (Xeloda)FDA Link 10/2013 - 06/2008
2	3-aminoisobutyric acidIBA 06/2008 - 01/2006
1	Thymidine PhosphorylaseIBA 03/2022
1	DeoxyuridineIBA 03/2022
1	ThymidineIBA 03/2022
1	AlbuminsIBA 01/2022
1	CreatinineIBA 01/2022
1	agalsidase alfaIBA 01/2019
1	AntibodiesIBA 01/2019
1	globotriaosyl lysosphingolipidIBA 01/2018
1	SphingolipidsIBA 01/2018
1	LipidsIBA 01/2018
1	3-methoxytyramine (methoxytyramine)IBA 01/2018
1	Protein Isoforms (Isoforms)IBA 12/2016
1	Uridine KinaseIBA 12/2016
1	Messenger RNA (mRNA)IBA 10/2013
1	Purine-Nucleoside PhosphorylaseIBA 06/2010
1	Adenosine DeaminaseIBA 06/2010
1	beta-AlanineIBA 06/2008
1	Leucovorin (Folinic Acid)FDA Link 04/2002

Therapy/Procedure

3	Drug Therapy (Chemotherapy) 12/2016 - 04/2002
1	Hematopoietic Stem Cell Transplantation 03/2022
1	Enzyme Replacement Therapy 01/2022