Dirk J Lefeber Selected Research

Congenital Disorders of Glycosylation

1/2022	Evaluation of Cell Models to Study Monocyte Functions in PMM2 Congenital Disorders of Glycosylation.
1/2022	De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
10/2020	Dissecting Total Plasma and Protein-Specific Glycosylation Profiles in Congenital Disorders of Glycosylation.
11/2019	A mutation in mannose-phosphate-dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy.
1/2019	Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.
6/2017	Three families with mild PMM2-CDG and normal cognitive development.
8/2016	Genetic defects in the hexosamine and sialic acid biosynthesis pathway.
1/2016	Clinical diagnostics and therapy monitoring in the congenital disorders of glycosylation.
12/2015	High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation.
8/2015	MALDI-TOF MS applied to apoC-III glycoforms of patients with congenital disorders affecting O-glycosylation. Comparison with two-dimensional electrophoresis.

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Dirk J Lefeber Research Topics

Disease

26	Congenital Disorders of Glycosylation 01/2022 - 12/2005
11	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2021 - 10/2012
8	Muscular Dystrophies (Muscular Dystrophy) 01/2022 - 07/2009
6	Intellectual Disability (Idiocy) 09/2021 - 08/2013
6	Walker-Warburg Syndrome 10/2019 - 07/2009
5	Metabolic Diseases (Metabolic Disease) 01/2022 - 08/2011
5	Hypercholesterolemia 01/2022 - 02/2016
5	Infections 12/2021 - 06/2012
5	Congenital disorder of glycosylation type II 01/2019 - 03/2013
5	Cutis Laxa 01/2017 - 09/2009
4	Inborn Errors Metabolism (Inborn Errors of Metabolism) 01/2022 - 01/2015
4	Neoplasms (Cancer) 12/2021 - 07/2015
4	Inborn Genetic Diseases (Disease, Hereditary) 12/2021 - 04/2006
4	Thrombocytopenia (Thrombopenia) 01/2021 - 10/2011
4	Muscular Diseases (Myopathy) 12/2020 - 08/2016
3	Retinitis Pigmentosa (Pigmentary Retinopathy) 01/2022 - 08/2010
3	Non-alcoholic Fatty Liver Disease 12/2020 - 03/2018
3	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 11/2019 - 12/2011
3	Muscle Hypotonia (Hypotonia) 11/2019 - 10/2012
3	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 10/2019 - 07/2013
2	Galactosemias (Galactosemia) 01/2022 - 01/2020
2	Fructose Intolerance (Intolerance, Fructose) 01/2022 - 11/2019
2	Inflammation (Inflammations) 12/2021 - 02/2021
2	Macular Degeneration (Age-Related Maculopathy) 12/2021 - 01/2021
2	Atrophy 01/2021 - 08/2017
2	Liver Diseases (Liver Disease) 12/2020 - 11/2020
2	Liver Failure 09/2020 - 02/2016
2	Proteinuria 05/2020 - 08/2013
2	Glaucoma 11/2019 - 11/2010
2	Sialic Acid Storage Disease (Salla Disease) 12/2018 - 06/2006
2	Drug Resistant Epilepsy 08/2017 - 10/2012
2	Thrombosis (Thrombus) 01/2017 - 03/2014
2	Cataract (Cataracts) 06/2015 - 11/2010
2	Ataxia (Dyssynergia) 08/2013 - 05/2013
2	Epilepsy (Aura) 05/2013 - 10/2012
2	recessive Cutis laxa 09/2009 - 06/2009
1	Hyperlipidemias (Hyperlipidemia) 01/2022
1	Fatty Liver 01/2022
1	Cardiomyopathies (Cardiomyopathy) 01/2022
1	Hepatocellular Carcinoma (Hepatoma) 01/2022
1	Melanoma (Melanoma, Malignant) 01/2022
1	Pathologic Processes 02/2021
1	Cholestasis 12/2020

Drug/Important Bio-Agent (IBA)

23	Proteins (Proteins, Gene)FDA Link 01/2022 - 04/2006
15	Polysaccharides (Glycans)IBA 01/2022 - 04/2006
11	Transferrin (beta 2 Transferrin)IBA 05/2020 - 12/2005
9	Dystroglycans (Dystroglycan)IBA 01/2022 - 07/2009
9	EnzymesIBA 01/2022 - 05/2013
8	LipidsIBA 01/2022 - 08/2011
5	Glycoproteins (Glycoprotein)IBA 01/2022 - 02/2014
5	Adenosine Triphosphatases (ATPase)IBA 01/2022 - 01/2017
5	DolicholsIBA 01/2022 - 07/2009
5	Transaminases (Aminotransferases)IBA 12/2020 - 06/2015
5	Apolipoprotein C-IIIIBA 08/2015 - 12/2005
4	Phosphates (Orthophosphate)IBA 01/2022 - 07/2009
4	Mannose (D-Mannose)IBA 01/2022 - 07/2009
4	Galactose (Galactopyranose)FDA LinkGeneric 01/2022 - 01/2020
4	N-Acetylneuraminic Acid (Sialic Acid)IBA 09/2021 - 01/2019
4	Congenital disorder of glycosylation type 1AIBA 01/2021 - 03/2013
3	LDL CholesterolIBA 01/2021 - 01/2019
3	Vacuolar Proton-Translocating ATPases (V-Type ATPase)IBA 12/2020 - 09/2009
3	AcetylglucosamineIBA 12/2018 - 07/2015
2	RibitolIBA 01/2022 - 10/2019
2	ApolipoproteinsIBA 01/2022 - 01/2019
2	Cytidine Monophosphate (CMP)IBA 01/2022 - 06/2006
2	cytidine diphosphate ribitolIBA 01/2022 - 10/2019
2	O-GlcNAc transferaseIBA 01/2020 - 01/2017
2	Uridine Diphosphate Glucose (UDP Glucose)IBA 01/2020 - 01/2020
2	Creatine Kinase (Creatine Phosphokinase)IBA 11/2019 - 10/2012
2	CholesterolIBA 01/2019 - 06/2012
2	Protein Isoforms (Isoforms)IBA 01/2019 - 02/2007
2	AntigensIBA 01/2019 - 01/2019
2	GlycolipidsIBA 01/2019 - 12/2018
2	Neuraminidase (Sialidase)IBA 01/2019 - 12/2007
2	LectinsIBA 01/2019 - 07/2015
2	PhosphoglucomutaseIBA 01/2018 - 12/2015
2	Blood Proteins (Serum Proteins)IBA 01/2017 - 06/2006
2	CollagenIBA 01/2017 - 11/2010
2	Alkaline PhosphataseIBA 02/2016 - 02/2016
2	Cytidine Monophosphate N-Acetylneuraminic AcidIBA 12/2015 - 08/2013
2	GlycosaminoglycansIBA 07/2015 - 01/2015
2	ElastinIBA 11/2010 - 09/2009
1	Messenger RNA (mRNA)IBA 01/2022
1	Terpenes (Terpenoids)IBA 01/2022
1	VLDL LipoproteinsIBA 01/2022
1	Apolipoproteins B (ApoB)IBA 01/2022
1	ProdrugsIBA 01/2022
1	Glucosamine (Dona)IBA 01/2022
1	Lipoproteins (Lipoprotein)IBA 01/2022
1	GlucosyltransferasesIBA 12/2021
1	mannosamine (D-mannosamine)IBA 09/2021
1	N-acetylneuraminate synthaseIBA 09/2021
1	FucoseIBA 02/2021
1	Tissue Inhibitor of Metalloproteinase-3IBA 01/2021
1	MannosidasesIBA 01/2021
1	Matrix Metalloproteinase 9 (Gelatinase B)IBA 01/2021
1	Metalloproteases (Metalloproteinases)IBA 01/2021
1	Membrane Proteins (Integral Membrane Proteins)IBA 12/2020

Therapy/Procedure

10	Therapeutics 01/2022 - 03/2013
3	Liver Transplantation 11/2020 - 07/2014