S Ferdinandusse Selected Research

sterol carrier proteins

6/2006	Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy.
12/2001	Identification of the peroxisomal beta-oxidation enzymes involved in the biosynthesis of docosahexaenoic acid.
3/2000	Peroxisomal fatty acid oxidation disorders and 58 kDa sterol carrier protein X (SCPx). Activity measurements in liver and fibroblasts using a newly developed method.

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S Ferdinandusse Research Topics

Disease

4	Alpha-Methylacyl-CoA Racemase Deficiency 06/2002 - 11/2000
3	Peroxisomal Disorders (Peroxisomal Disorder) 04/2008 - 01/2001
2	Refsum Disease (Refsum's Disease) 04/2005 - 05/2000
2	Zellweger Syndrome (Zellweger's Syndrome) 01/2001 - 03/2000
1	Lethargy 01/2016
1	Medium chain acyl CoA dehydrogenase deficiency 01/2016
1	Seizures (Absence Seizure) 01/2016
1	Ventricular Tachycardia 01/2016
1	Inborn Genetic Diseases (Disease, Hereditary) 03/2010
1	Brain Diseases (Brain Disorder) 04/2008
1	Sjogren-Larsson Syndrome 09/2006
1	Dystonia (Limb Dystonia) 06/2006
1	Peroxisome biogenesis disorders 04/2005
1	Protein Deficiency 01/2005
1	Retinitis Pigmentosa (Pigmentary Retinopathy) 03/2002
1	Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked) 12/2001
1	Liver Diseases (Liver Disease) 01/2001

Drug/Important Bio-Agent (IBA)

5	Fatty Acids (Saturated Fatty Acids)IBA 01/2016 - 12/2001
5	EnzymesIBA 03/2010 - 11/2000
4	pristanic acidIBA 04/2008 - 11/2000
3	sterol carrier proteinsIBA 06/2006 - 03/2000
2	Acyl-CoA OxidaseIBA 06/2002 - 12/2001
2	AcidsIBA 03/2002 - 01/2001
2	Racemases and Epimerases (Epimerases and Racemases)IBA 03/2002 - 01/2001
2	Bile Acids and Salts (Bile Acids)IBA 03/2002 - 01/2001
2	Proteins (Proteins, Gene)FDA Link 12/2001 - 11/2000
1	Glucose (Dextrose)FDA LinkGeneric 01/2016
1	Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)IBA 01/2016
1	long-chain-aldehyde dehydrogenaseIBA 09/2006
1	BezafibrateIBA 09/2006
1	type 1 Rhizomelic chondrodysplasia punctataIBA 12/2001
1	Coenzyme A (CoA)IBA 01/2001
1	alpha-methylacyl-CoA racemaseIBA 01/2001
1	Taurine FDA Link 01/2001
1	Mixed Function Oxygenases (Monooxygenases)IBA 05/2000
1	Phytanic AcidIBA 05/2000
1	phytanoyl-coenzyme A (phytanoyl CoA)IBA 05/2000

Therapy/Procedure

1	Intravenous Infusions 01/2016