Eva Morava Selected Research

Wrinkly skin syndrome

9/2009	Autosomal recessive cutis laxa syndrome revisited.
1/2008	Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

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Eva Morava Research Topics

Disease

25	Congenital Disorders of Glycosylation 01/2022 - 11/2003
15	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2022 - 10/2012
12	Mitochondrial Diseases (Mitochondrial Disease) 01/2022 - 01/2006
11	Cutis Laxa 11/2020 - 04/2005
7	Hypoglycemia (Reactive Hypoglycemia) 01/2021 - 08/2014
7	Muscular Diseases (Myopathy) 01/2021 - 01/2007
6	Inborn Errors Metabolism (Inborn Errors of Metabolism) 01/2022 - 01/2004
5	Glycogen Storage Disease XIV 01/2021 - 08/2014
5	Intellectual Disability (Idiocy) 01/2021 - 03/2002
5	Disease Progression 01/2019 - 11/2009
5	Congenital disorder of glycosylation type II 12/2018 - 01/2008
5	recessive Cutis laxa 11/2013 - 06/2005
4	Inborn Genetic Diseases (Disease, Hereditary) 01/2021 - 04/2006
4	Epilepsy (Aura) 11/2020 - 03/2007
4	Seizures (Absence Seizure) 07/2020 - 08/2013
4	Muscle Hypotonia (Hypotonia) 12/2019 - 03/2007
4	Infections 01/2018 - 03/2002
4	Lactic Acidosis 05/2015 - 03/2007
4	Type I 3-Methylglutaconic Aciduria 01/2014 - 04/2006
3	Peripheral Nervous System Diseases (PNS Diseases) 12/2021 - 03/2014
3	Mental Disorders (Mental Disorder) 01/2021 - 01/2012
3	Liver Failure 01/2021 - 02/2016
3	Hypercholesterolemia 12/2020 - 02/2016
3	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 01/2019 - 12/2011
3	Methylmalonic acidemia 01/2018 - 10/2007
3	Cataract (Cataracts) 04/2014 - 10/2006
3	3-Methylglutaconic Aciduria 01/2014 - 01/2012
3	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 03/2013 - 05/2011
3	Heart Failure 03/2013 - 05/2011
3	Deafness (Deaf Mutism) 06/2012 - 03/2007
2	Brain Diseases (Brain Disorder) 01/2022 - 04/2008
2	Ataxia (Dyssynergia) 12/2021 - 08/2013
2	Diabetic Neuropathies (Diabetic Neuropathy) 12/2021 - 11/2019
2	Wounds and Injuries (Trauma) 05/2021 - 07/2020
2	Post-Traumatic Stress Disorders (Post Traumatic Stress Disorder) 05/2021 - 07/2020
2	Liver Cirrhosis (Hepatic Cirrhosis) 01/2021 - 07/2014
2	Neurodevelopmental Disorders 01/2021 - 01/2021
2	Neoplasms (Cancer) 01/2021 - 01/2018
2	Liver Diseases (Liver Disease) 01/2021 - 12/2020
2	Cleft Palate (Palate, Cleft) 01/2021 - 09/2020
2	Congenital Heart Defects (Congenital Heart Defect) 11/2020 - 01/2002
2	Diarrhea 09/2020 - 03/2002
2	MELAS Syndrome (Syndrome, MELAS) 01/2020 - 04/2008
2	Reinfection 12/2019 - 01/2012
2	Rheumatoid Arthritis 01/2019 - 03/2002
2	Cardiomyopathies (Cardiomyopathy) 11/2018 - 04/2014
2	Hearing Loss (Hearing Impairment) 01/2018 - 11/2009
2	Galactosemias (Galactosemia) 01/2018 - 01/2017
2	Barth Syndrome 01/2014 - 11/2013
2	Costeff optic atrophy syndrome 01/2014 - 11/2013

Drug/Important Bio-Agent (IBA)

20	Proteins (Proteins, Gene)FDA Link 01/2022 - 01/2003
16	Congenital disorder of glycosylation type 1AIBA 01/2022 - 01/2012
13	EnzymesIBA 01/2022 - 01/2002
11	LipidsIBA 01/2022 - 01/2007
11	Transferrin (beta 2 Transferrin)IBA 10/2017 - 04/2005
10	Polysaccharides (Glycans)IBA 01/2022 - 06/2005
7	GlycogenIBA 01/2021 - 09/2007
6	Alkaline PhosphataseIBA 07/2020 - 11/2002
6	Leucine (L-Leucine)FDA Link 04/2016 - 04/2006
5	Transaminases (Aminotransferases)IBA 01/2021 - 02/2016
5	Mannose (D-Mannose)IBA 01/2020 - 07/2009
5	CollagenIBA 01/2017 - 11/2006
5	Apolipoprotein C-IIIIBA 09/2009 - 11/2003
4	PhosphoglucomutaseIBA 01/2021 - 12/2015
4	Biomarkers (Surrogate Marker)IBA 06/2020 - 11/2009
3	Glycoproteins (Glycoprotein)IBA 01/2022 - 02/2014
3	Pyruvic Acid (Pyruvate)IBA 05/2021 - 08/2004
3	SugarsIBA 01/2021 - 08/2014
3	Galactose (Galactopyranose)FDA LinkGeneric 01/2021 - 08/2014
3	CalciumIBA 05/2020 - 11/2006
3	DolicholsIBA 12/2019 - 07/2009
3	Blood Proteins (Serum Proteins)IBA 01/2019 - 06/2006
3	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 01/2018 - 10/2007
3	ElastinIBA 04/2014 - 09/2009
3	3-methylglutaconic acidIBA 11/2013 - 04/2006
3	Mitochondrial DNA (mtDNA)IBA 10/2012 - 01/2009
2	epalrestatIBA 12/2021 - 11/2019
2	Fatty Acids (Saturated Fatty Acids)IBA 05/2021 - 07/2020
2	phosphomannomutaseIBA 01/2021 - 01/2019
2	Adrenocorticotropic Hormone (ACTH)FDA Link 01/2021 - 11/2020
2	LDL CholesterolIBA 12/2020 - 01/2019
2	Vacuolar Proton-Translocating ATPases (V-Type ATPase)IBA 12/2020 - 09/2009
2	Adenosine Triphosphatases (ATPase)IBA 12/2020 - 01/2017
2	DNA (Deoxyribonucleic Acid)IBA 01/2020 - 06/2005
2	Phosphates (Orthophosphate)IBA 01/2020 - 07/2009
2	Hypoglycemic Agents (Hypoglycemics)IBA 01/2020 - 11/2018
2	Immunoglobulin G (IgG)IBA 12/2019 - 03/2002
2	MannosyltransferasesIBA 12/2019 - 10/2012
2	Pharmaceutical PreparationsIBA 11/2019 - 01/2012
2	CholesterolIBA 01/2019 - 06/2012
2	Cytidine Monophosphate N-Acetylneuraminic AcidIBA 12/2015 - 08/2013
2	Protein Isoforms (Isoforms)IBA 08/2015 - 02/2007
2	Triglycerides (Triacylglycerol)IBA 01/2015 - 08/2013
2	Oxidoreductases (Dehydrogenase)IBA 07/2014 - 11/2013
2	Pyruvate Dehydrogenase Complex (Dehydrogenase Complex, Pyruvate)IBA 07/2014 - 03/2014
2	Retinaldehyde (Retinal)IBA 07/2014 - 11/2010
2	dichloromaleic acid (DCMA)IBA 01/2014 - 11/2013
2	Extracellular Matrix ProteinsIBA 01/2014 - 08/2011

Therapy/Procedure

15	Therapeutics 01/2022 - 06/2010
2	Liver Transplantation 02/2016 - 07/2014