Eva Morava Selected Research

Mannose (D-Mannose)

5/2024	D-mannose as a new therapy for fucokinase deficiency-related congenital disorder of glycosylation (FCSK-CDG).
5/2024	Normal transferrin glycosylation does not rule out severe ALG1 deficiency.
1/2022	Mannose treatment improves immune deficiency in mannose phosphate isomerase-congenital disorder of glycosylation: case report and review of literature.
1/2020	Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation.
12/2019	Complex phenotypes in ALG12-congenital disorder of glycosylation (ALG12-CDG): Case series and review of the literature.
12/2018	Use of Endoglycosidase H as a diagnostic tool for MAN1B1-CDG patients.
7/2014	Successful liver transplantation and long-term follow-up in a patient with MPI-CDG.
7/2009	Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies.

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Eva Morava Research Topics

Disease

33	Congenital Disorders of Glycosylation 05/2024 - 11/2003
20	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 05/2024 - 10/2012
13	Mitochondrial Diseases (Mitochondrial Disease) 01/2023 - 01/2006
11	Cutis Laxa 11/2020 - 04/2005
9	Hypoglycemia (Reactive Hypoglycemia) 01/2023 - 08/2014
8	Muscular Diseases (Myopathy) 01/2023 - 01/2007
7	Seizures (Absence Seizure) 11/2023 - 08/2013
7	Glycogen Storage Disease XIV 03/2023 - 08/2014
6	Inborn Errors Metabolism (Inborn Errors of Metabolism) 01/2022 - 01/2004
5	Infections 01/2023 - 03/2002
5	Inborn Genetic Diseases (Disease, Hereditary) 01/2023 - 04/2006
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	Ataxia (Dyssynergia) 11/2023 - 08/2013
4	Cardiomyopathies (Cardiomyopathy) 03/2023 - 04/2014
4	Heart Failure 03/2023 - 05/2011
4	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 03/2023 - 12/2011
4	Liver Failure 01/2023 - 02/2016
4	Epilepsy (Aura) 11/2020 - 03/2007
4	Muscle Hypotonia (Hypotonia) 12/2019 - 03/2007
4	Lactic Acidosis 05/2015 - 03/2007
4	Type I 3-Methylglutaconic Aciduria 01/2014 - 04/2006
3	Diarrhea 05/2024 - 03/2002
3	Metabolic Diseases (Metabolic Disease) 05/2024 - 10/2012
3	Fibrosis (Cirrhosis) 01/2023 - 01/2021
3	Liver Diseases (Liver Disease) 01/2023 - 12/2020
3	Galactosemias (Galactosemia) 01/2022 - 01/2017
3	Peripheral Nervous System Diseases (PNS Diseases) 12/2021 - 03/2014
3	Ichthyosis (Xeroderma) 11/2021 - 01/2007
3	Mental Disorders (Mental Disorder) 01/2021 - 01/2012
3	Hypercholesterolemia 12/2020 - 02/2016
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	Deafness (Deaf Mutism) 06/2012 - 03/2007
2	Rare Diseases (Rare Disease) 04/2024 - 10/2021
2	Muscular Dystrophies (Muscular Dystrophy) 03/2024 - 07/2009
2	Thrombosis (Thrombus) 01/2023 - 03/2014
2	Hemorrhage 01/2023 - 08/2013
2	Hepatomegaly 01/2023 - 01/2021
2	Language Development Disorders (Semantic-Pragmatic Disorder) 11/2022 - 01/2021
2	Microcephaly 11/2022 - 10/2012
2	Retinitis Pigmentosa (Pigmentary Retinopathy) 09/2022 - 07/2014
2	Edema (Dropsy) 09/2022 - 01/2012
2	Protein-Losing Enteropathies (Protein-Losing Enteropathy) 09/2022 - 07/2014
2	Brain Diseases (Brain Disorder) 01/2022 - 04/2008
2	Diabetic Neuropathies (Diabetic Neuropathy) 12/2021 - 11/2019
2	Chanarin-Dorfman Syndrome 11/2021 - 01/2015
2	Wounds and Injuries (Trauma) 05/2021 - 07/2020
2	Post-Traumatic Stress Disorders (Post Traumatic Stress Disorder) 05/2021 - 07/2020
2	Neoplasms (Cancer) 01/2021 - 01/2018

Drug/Important Bio-Agent (IBA)

23	Proteins (Proteins, Gene)FDA Link 05/2024 - 01/2003
21	Congenital disorder of glycosylation type 1AIBA 04/2024 - 01/2012
16	EnzymesIBA 03/2024 - 01/2002
14	LipidsIBA 01/2023 - 01/2007
13	Transferrin (beta 2 Transferrin)IBA 01/2023 - 04/2005
10	Polysaccharides (Glycans)IBA 01/2022 - 06/2005
8	Mannose (D-Mannose)IBA 05/2024 - 07/2009
8	GlycogenIBA 01/2023 - 09/2007
8	Transaminases (Aminotransferases)IBA 01/2023 - 02/2016
7	Alkaline PhosphataseIBA 11/2023 - 11/2002
6	Biomarkers (Surrogate Marker)IBA 04/2024 - 11/2009
6	Leucine (L-Leucine)FDA Link 04/2016 - 04/2006
5	PhosphoglucomutaseIBA 01/2023 - 12/2015
5	Galactose (Galactopyranose)FDA LinkGeneric 01/2023 - 08/2014
5	CollagenIBA 01/2017 - 11/2006
5	Apolipoprotein C-IIIIBA 09/2009 - 11/2003
4	DolicholsIBA 05/2024 - 07/2009
4	Creatine Kinase (Creatine Phosphokinase)IBA 03/2024 - 10/2012
4	Lactic Acid (Lactate)FDA LinkGeneric 01/2023 - 01/2006
4	Pyruvic Acid (Pyruvate)IBA 01/2023 - 08/2004
3	Immunoglobulin G (IgG)IBA 01/2023 - 03/2002
3	phosphomannomutaseIBA 01/2023 - 01/2019
3	epalrestatIBA 01/2023 - 11/2019
3	Phosphates (Orthophosphate)IBA 01/2022 - 07/2009
3	Glycoproteins (Glycoprotein)IBA 01/2022 - 02/2014
3	SugarsIBA 01/2021 - 08/2014
3	CalciumIBA 05/2020 - 11/2006
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	FucoseIBA 05/2024 - 01/2022
2	OligosaccharidesIBA 05/2024 - 12/2015
2	carbohydrate-deficient transferrinIBA 04/2024 - 01/2023
2	Acetazolamide (Diamox)FDA LinkGeneric 11/2023 - 09/2022
2	Antidepressive Agents (Antidepressants)IBA 01/2023 - 01/2021
2	Amino Acids FDA Link 01/2023 - 05/2021
2	Immunoglobulin M (IgM)IBA 01/2022 - 03/2002
2	Glycosylphosphatidylinositols (Glycosyl-Phosphatidylinositol)IBA 01/2022 - 04/2018
2	IsomerasesIBA 01/2022 - 01/2020
2	Fatty Acids (Saturated Fatty Acids)IBA 05/2021 - 07/2020
2	Adrenocorticotropic Hormone (ACTH)FDA Link 01/2021 - 11/2020

Therapy/Procedure

22	Therapeutics 05/2024 - 06/2010
3	Liver Transplantation 01/2023 - 07/2014
2	Heart Transplantation (Grafting, Heart) 03/2023 - 03/2013