Graziella Uziel Selected Research

Multiple Sulfatase Deficiency Disease (Mucosulfatidosis)

6/2004

Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.

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Graziella Uziel Research Topics

Disease

6	Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked) 11/2014 - 01/2003
3	Leukoencephalopathies 09/2014 - 04/2007
3	Mitochondrial Diseases (Mitochondrial Disease) 09/2014 - 05/2009
2	Disease Progression 02/2015 - 12/2010
2	Cytochrome-c Oxidase Deficiency 09/2014 - 08/2002
2	MELAS Syndrome (Syndrome, MELAS) 03/2014 - 05/2009
2	Mitochondrial encephalopathy 03/2014 - 05/2007
2	Ataxia (Dyssynergia) 06/2013 - 05/2013
2	MERRF Syndrome (Myoclonic Epilepsy and Ragged Red Fibers) 05/2013 - 05/2009
2	5 Hypomyelinating Leukodystrophy 08/2007 - 10/2006
1	Neurologic Manifestations (Neurological Manifestations) 02/2015
1	Type C Niemann-Pick Disease (Niemann Pick Disease, Type C) 02/2015
1	Sideroblastic Anemia 01/2015
1	Myopathy with lactic acidosis and sideroblastic anemia 01/2015
1	Compulsive Personality Disorder (Obsessive Compulsive Personality) 09/2014
1	Stroke (Strokes) 03/2014
1	Lactic Acidosis 03/2014
1	Myalgia 05/2013
1	Lipoma (Lipomata) 05/2013
1	Migraine Disorders (Migraine) 05/2013
1	Cardiomyopathies (Cardiomyopathy) 05/2013
1	Myoclonus (Nocturnal Myoclonus) 05/2013
1	Ophthalmoplegia (External Ophthalmoplegia) 05/2013
1	Optic Atrophy 05/2013
1	Seizures (Absence Seizure) 05/2013
1	Tremor (Tremors) 05/2013
1	Muscle Weakness 05/2013
1	Hearing Loss (Hearing Impairment) 05/2013
1	Cognitive Dysfunction 05/2013
1	autosomal recessive 1 Spinocerebellar ataxia 08/2011
1	Hereditary Spastic Paraplegia 06/2011
1	Pelizaeus-Merzbacher Disease 06/2011
1	Brain Diseases (Brain Disorder) 03/2011
1	Mitochondrial Encephalomyopathies (Mitochondrial Encephalomyopathy) 04/2010
1	Deoxyguanosine Kinase Deficiency 01/2009
1	Liver Diseases (Liver Disease) 01/2009
1	Hypoglycemia (Reactive Hypoglycemia) 01/2009
1	Demyelinating Diseases (Demyelinating Disease) 11/2008
1	Metachromatic Leukodystrophy (Sulfatide Lipidosis) 11/2008
1	Homocystinuria 04/2008
1	Methylmalonic acidemia 04/2008
1	Multiple Sulfatase Deficiency Disease (Mucosulfatidosis) 06/2004
1	Schizophrenia (Dementia Praecox) 01/2003
1	Leigh Disease (Leigh's Disease) 08/2002

Drug/Important Bio-Agent (IBA)

4	Mitochondrial DNA (mtDNA)IBA 03/2014 - 05/2009
2	Glucose (Dextrose)FDA LinkGeneric 09/2014 - 01/2009
2	Electron Transport Complex IV (Cytochrome c Oxidase)IBA 09/2014 - 08/2002
2	Membrane Proteins (Integral Membrane Proteins)IBA 08/2007 - 10/2006
1	miglustat (Zavesca)FDA Link 02/2015
1	AnticodonIBA 01/2015
1	Tyr Transfer RNAIBA 01/2015
1	Mitochondrial Proteins (Mitochondrial Protein)IBA 09/2014
1	Estrogens (Estrogen)FDA Link 03/2014
1	Creatine Kinase (Creatine Phosphokinase)IBA 05/2013
1	Valproic Acid (Depakote)FDA LinkGeneric 10/2012
1	Biomarkers (Surrogate Marker)IBA 01/2012
1	coenzyme Q10 (CoQ10)IBA 08/2011
1	Myelin Proteolipid ProteinIBA 06/2011
1	Nonsense Codon (Nonsense Mutation)IBA 03/2011
1	Protons (Proton)IBA 12/2010
1	Apoptosis Inducing FactorIBA 04/2010
1	Succinate Dehydrogenase (Fumarate Reductase)IBA 06/2009
1	Biological ProductsIBA 01/2009
1	Glucagon (Glukagon)FDA Link 01/2009
1	SaposinsIBA 11/2008
1	Cerebroside-Sulfatase (Arylsulfatase A)IBA 11/2008
1	Sulfoglycosphingolipids (Sulfatides)IBA 11/2008
1	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 04/2008
1	Electron Transport Complex III (Coenzyme Q-Cytochrome-c Reductase)IBA 05/2007
1	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate ElevationIBA 04/2007
1	Lactic Acid (Lactate)FDA LinkGeneric 04/2007
1	SulfatasesIBA 06/2004
1	Lorenzo's oilIBA 01/2003
1	trierucateIBA 01/2003
1	Codon (Codons)IBA 01/2003

Therapy/Procedure

3	Therapeutics 01/2015 - 01/2003
1	Cell Transplantation 12/2010
1	Liver Transplantation 01/2009