Hanna Mandel Selected Research

Type Im Congenital Disorder Of Glycosylation

3/2013

From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG).

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Hanna Mandel Research Topics

Disease

7	Glycogen Storage Disease Type II (Pompe's Disease) 10/2021 - 05/2006
4	Infections 08/2021 - 06/2002
4	Mitochondrial Diseases (Mitochondrial Disease) 03/2021 - 04/2017
4	Brain Diseases (Brain Disorder) 01/2021 - 07/2002
3	Liver Diseases (Liver Disease) 08/2021 - 02/2010
3	Inborn Genetic Diseases (Disease, Hereditary) 03/2021 - 05/2007
3	Muscular Diseases (Myopathy) 01/2014 - 07/2002
3	Congenital Disorders of Glycosylation 03/2013 - 05/2007
3	AIDS-Related Complex (ARC) 04/2010 - 10/2006
2	Inborn Errors Metabolism (Inborn Errors of Metabolism) 11/2022 - 12/2008
2	Hyperammonemia 11/2022 - 11/2019
2	Disease Progression 08/2021 - 04/2005
2	progressive familial intrahepatic 1 Cholestasis 08/2021 - 11/2003
2	Inborn Urea Cycle Disorders 01/2021 - 11/2019
2	Intellectual Disability (Idiocy) 11/2019 - 04/2011
2	Cerebrotendinous Xanthomatosis 11/2018 - 12/2008
2	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 01/2018 - 03/2013
2	Arthrogryposis 11/2016 - 04/2004
2	Hyperekplexia 11/2016 - 11/2013
2	Peripheral Nervous System Diseases (PNS Diseases) 10/2015 - 08/2014
2	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 03/2013 - 12/2011
2	Ethylmalonic encephalopathy 05/2011 - 02/2004
2	Microcephaly 04/2011 - 09/2009
2	Liver Failure 09/2009 - 07/2002
2	Cholestasis 12/2007 - 04/2004
2	Arthrogryposis renal dysfunction cholestasis syndrome 04/2004 - 11/2003
1	Alagille Syndrome (Alagille-Watson Syndrome) 08/2021
1	Disorders of Sex Development (Intersexuality) 10/2020
1	Starvation 01/2019
1	Cardiomyopathies (Cardiomyopathy) 10/2018
1	Muscle Hypotonia (Hypotonia) 01/2018
1	Seizures (Absence Seizure) 01/2018
1	Virus Diseases (Viral Diseases) 01/2018
1	Epilepsia Partialis Continua 01/2018
1	Cytochrome-c Oxidase Deficiency 01/2018
1	Glycogen Storage Disease Type IIb 09/2017
1	Nephrocalcinosis 03/2017
1	Primary Hyperoxaluria (Oxaluria, Primary) 03/2017
1	Protein-Losing Enteropathies (Protein-Losing Enteropathy) 01/2017
1	Hypersensitivity (Allergy) 01/2017
1	Nonketotic Hyperglycinemia 11/2016
1	Absent corpus callosum cataract immunodeficiency 03/2016
1	Neurodevelopmental Disorders 03/2016
1	Visceral myopathy familial external ophthalmoplegia 10/2015
1	Walker-Warburg Syndrome 05/2015
1	Leigh Disease (Leigh's Disease) 12/2014
1	Optic Atrophy 08/2014
1	Spastic Paraparesis 08/2014
1	Hepatocellular Carcinoma (Hepatoma) 08/2014
1	Muscle Spasticity (Spastic) 04/2014

Drug/Important Bio-Agent (IBA)

9	Proteins (Proteins, Gene)FDA Link 03/2021 - 01/2003
9	EnzymesIBA 10/2018 - 01/2003
5	human GAA protein (Myozyme)FDA Link 10/2021 - 03/2009
4	AcidsIBA 01/2014 - 09/2009
4	Mitochondrial DNA (mtDNA)IBA 09/2009 - 07/2002
3	Ligases (Synthetase)IBA 01/2018 - 12/2008
3	alpha-Glucosidases (Acid Maltase)IBA 01/2014 - 01/2010
2	AmmoniaIBA 11/2022 - 02/2010
2	Urea (Carbamide)FDA LinkGeneric 11/2022 - 07/2003
2	Glycoproteins (Glycoprotein)IBA 10/2020 - 05/2007
2	Transfer RNA (tRNA)IBA 01/2018 - 04/2017
2	Alanine-glyoxylate transaminase (alanine-glyoxylate aminotransferase)IBA 03/2017 - 05/2005
2	OxalatesIBA 03/2017 - 05/2005
2	GlycogenIBA 03/2016 - 06/2013
2	Dystroglycans (Dystroglycan)IBA 05/2015 - 12/2011
2	SNARE Proteins (SNAREs)IBA 10/2006 - 08/2005
1	Leucine (L-Leucine)FDA Link 11/2022
1	TrypsinIBA 08/2021
1	Valganciclovir FDA Link 08/2021
1	CitrullineIBA 01/2021
1	Orotic AcidIBA 01/2021
1	glycerol phenylbutyrateIBA 11/2019
1	Phosphotransferases (Kinase)IBA 01/2019
1	Glucose (Dextrose)FDA LinkGeneric 01/2019
1	SolutionsIBA 11/2018
1	Gln Transfer RNAIBA 10/2018
1	Mitochondrial Proteins (Mitochondrial Protein)IBA 01/2018
1	Adenosine Triphosphate (ATP)IBA 01/2018
1	RNA (Ribonucleic Acid)IBA 01/2018
1	Valine-tRNA LigaseIBA 01/2018
1	Lactic Acid (Lactate)FDA LinkGeneric 01/2018
1	Lysosomal Membrane ProteinsIBA 09/2017
1	glycolic acid (glycolate)IBA 03/2017
1	CytokinesIBA 01/2017
1	eculizumab FDA Link 01/2017
1	LipopolysaccharidesIBA 01/2017
1	Glycine (Aminoacetic Acid)FDA LinkGeneric 11/2016
1	Glycine Plasma Membrane Transport ProteinsIBA 11/2016
1	AntigensIBA 10/2015
1	LipofuscinIBA 01/2014
1	Ligand-Gated Ion ChannelsIBA 11/2013

Therapy/Procedure

3	Therapeutics 11/2022 - 03/2013
3	Enzyme Replacement Therapy 10/2021 - 06/2013
2	Transplantation 10/2015 - 03/2007
2	Mechanical Ventilators (Ventilator) 01/2010 - 05/2006
1	Renal Dialysis (Hemodialysis) 11/2022
1	Hematopoietic Stem Cell Transplantation 01/2021
1	Stem Cell Transplantation 10/2015
1	Liver Transplantation 08/2014
1	Gastrostomy 04/2014