Lenka Dvoráková Selected Research

Sphingolipid Activator Proteins

2/2009

Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations.

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Lenka Dvoráková Research Topics

Disease

2	Gaucher Disease (Gaucher's Disease) 08/2010 - 07/2009
1	Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked) 01/2012
1	Metabolic Diseases (Metabolic Disease) 01/2012
1	Lipidoses 08/2010
1	Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis) 08/2010
1	Mucopolysaccharidoses 08/2010
1	Metachromatic Leukodystrophy (Sulfatide Lipidosis) 02/2009
1	Metachromatic Leukodystrophy due to Saposin B Deficiency 02/2009
1	Combined Saposin Deficiency 02/2009
1	Dystonia (Limb Dystonia) 11/2007
1	Deafness (Deaf Mutism) 11/2007
1	Brain Diseases (Brain Disorder) 01/2007
1	Muscle Hypotonia (Hypotonia) 01/2007
1	Seizures (Absence Seizure) 01/2007
1	Hypokinesia (Bradykinesia) 01/2007
1	Fabry Disease (Fabry's Disease) 04/2005
1	Renal Insufficiency (Renal Failure) 04/2005

Drug/Important Bio-Agent (IBA)

2	Proteins (Proteins, Gene)FDA Link 01/2012 - 02/2009
1	ATP-Binding Cassette Transporters (ABC Transporters)IBA 01/2012
1	Lysergic Acid Diethylamide (LSD)IBA 08/2010
1	SphingolipidsIBA 02/2009
1	SaposinsIBA 02/2009
1	ArylsulfatasesIBA 02/2009
1	Sphingolipid Activator ProteinsIBA 02/2009
1	LipidsIBA 02/2009
1	Peptides (Polypeptides)IBA 11/2007
1	Mitochondrial Proteins (Mitochondrial Protein)IBA 11/2007
1	Adenylosuccinate lyase deficiencyIBA 01/2007
1	MouthwashesIBA 04/2005
1	DNA (Deoxyribonucleic Acid)IBA 04/2005
1	alpha-Galactosidase (Beano)IBA 04/2005

Therapy/Procedure

1	Enzyme Replacement Therapy 07/2009
1	Artificial Respiration (Mechanical Ventilation) 01/2007
1	Kidney Transplantation 04/2005