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Klaus Harzer Selected Research

Sphingolipid Activator Proteins

2/2009Prosaposin 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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Klaus Harzer Research Topics

Disease

11Lysosomal Storage Diseases (Lysosomal Storage Disease)
07/2022 - 02/2003
6Metachromatic Leukodystrophy (Sulfatide Lipidosis)
07/2022 - 06/2006
3Type C Niemann-Pick Disease (Niemann Pick Disease, Type C)
05/2003 - 01/2002
2Fabry Disease (Fabry's Disease)
03/2022 - 11/2005
2Neurodegenerative Diseases (Neurodegenerative Disease)
03/2021 - 06/2013
2Mucopolysaccharidoses
11/2020 - 05/2003
2Gaucher Disease (Gaucher's Disease)
01/2019 - 06/2012
2Globoid Cell Leukodystrophy (Krabbe Disease)
05/2017 - 03/2002
2Combined Saposin Deficiency
11/2016 - 02/2009
1Dysostoses
03/2021
1Ichthyosis (Xeroderma)
03/2021
1Multiple Sulfatase Deficiency Disease (Mucosulfatidosis)
03/2021
1Disease Progression
11/2020
1Chondrodysplasia Punctata (Stippled Epiphyses)
11/2020
1X-Linked Ichthyosis (Ichthyosis, X Linked)
11/2020
1Paraplegia (Spastic Paraplegia)
01/2019
1Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis)
12/2018
1Intellectual Disability (Idiocy)
12/2018
1Muscle Hypotonia (Hypotonia)
12/2018
1Epilepsy (Aura)
12/2018
1Facies
12/2018
1Gangliosidoses (Gangliosidosis)
06/2013
1Dementia (Dementias)
06/2013
1Blindness (Hysterical Blindness)
06/2013
1Male Infertility (Male Sterility)
06/2012
1Metachromatic Leukodystrophy due to Saposin B Deficiency
02/2009
1Hypercholesterolemia
06/2006
1Alzheimer Disease (Alzheimer's Disease)
05/2003
1Lipidoses
02/2003
1Neurologic Manifestations (Neurological Manifestations)
02/2003

Drug/Important Bio-Agent (IBA)

4Cerebroside-Sulfatase (Arylsulfatase A)IBA
07/2022 - 06/2006
3EnzymesIBA
03/2021 - 05/2003
3Proteins (Proteins, Gene)FDA Link
06/2013 - 02/2003
3LipidsIBA
02/2009 - 01/2002
3CholesterolIBA
06/2006 - 02/2003
2alpha-Galactosidase (Beano)IBA
03/2022 - 11/2005
2SulfatasesIBA
03/2021 - 11/2020
2Sulfoglycosphingolipids (Sulfatides)IBA
03/2021 - 11/2017
2GalactosidasesIBA
05/2017 - 06/2013
2Lysergic Acid Diethylamide (LSD)IBA
11/2016 - 09/2015
2Glucosylceramides (Glucocerebrosides)IBA
06/2012 - 02/2003
1N-formylglycineIBA
03/2021
1GlucosidasesIBA
01/2019
1LipofuscinIBA
12/2018
1Phosphotransferases (Kinase)IBA
12/2018
1Galactosylceramides (Galactocerebrosides)IBA
05/2017
1GlycosphingolipidsIBA
11/2016
1HydrolasesIBA
06/2013
1GangliosidesIBA
06/2013
1Hexosaminidases (Hexosaminidase)IBA
06/2013
1SphingolipidsIBA
02/2009
1Sphingolipid Activator ProteinsIBA
02/2009
1SaposinsIBA
02/2009
1ArylsulfatasesIBA
02/2009
1GlycopeptidesIBA
05/2003
1GlycosaminoglycansIBA
05/2003
1tau Proteins (tau Protein)IBA
05/2003
1SphingomyelinsIBA
02/2003
1SterolsIBA
02/2003
1galactosylsphingosine (psychosine) beta-galactosidaseIBA
03/2002

Therapy/Procedure

1Bone Marrow Transplantation (Transplantation, Bone Marrow)
10/2006
1Therapeutics
10/2006