Dirk J Lefeber Selected Research

Galactose (Galactopyranose)

5/2023	In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis.
1/2022	Novel mRNA therapy restores GALT protein and enzyme activity in a zebrafish model of classic galactosemia.
1/2021	Galactose in human metabolism, glycosylation and congenital metabolic diseases: Time for a closer look.
9/2020	Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots.
1/2020	Nucleotide sugar profiles throughout development in wildtype and galt knockout zebrafish.

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Dirk J Lefeber Research Topics

Disease

27	Congenital Disorders of Glycosylation 05/2023 - 12/2005
12	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2023 - 10/2012
8	Muscular Dystrophies (Muscular Dystrophy) 01/2022 - 07/2009
6	Infections 08/2023 - 06/2012
6	Intellectual Disability (Idiocy) 09/2021 - 08/2013
6	Walker-Warburg Syndrome 10/2019 - 07/2009
5	Neoplasms (Cancer) 02/2024 - 07/2015
5	Inborn Genetic Diseases (Disease, Hereditary) 09/2023 - 04/2006
5	Muscular Diseases (Myopathy) 01/2023 - 08/2016
5	Inborn Errors Metabolism (Inborn Errors of Metabolism) 01/2023 - 01/2015
5	Metabolic Diseases (Metabolic Disease) 01/2022 - 08/2011
5	Hypercholesterolemia 01/2022 - 02/2016
5	Congenital disorder of glycosylation type II 01/2019 - 03/2013
5	Cutis Laxa 01/2017 - 09/2009
4	Thrombocytopenia (Thrombopenia) 01/2021 - 10/2011
3	Fructose Intolerance (Intolerance, Fructose) 09/2023 - 11/2019
3	Macular Degeneration (Age-Related Maculopathy) 01/2022 - 01/2021
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	Glycogen Storage Disease XIV 05/2023 - 01/2018
2	Hypoglycemia (Reactive Hypoglycemia) 05/2023 - 09/2020
2	Galactosemias (Galactosemia) 01/2022 - 01/2020
2	Inflammation (Inflammations) 12/2021 - 02/2021
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	Multiple Myeloma 02/2024
1	Disease Progression 02/2024
1	Virus Diseases (Viral Diseases) 08/2023
1	Lysosomal Storage Diseases (Lysosomal Storage Disease) 05/2023
1	Glut1 Deficiency Syndrome 01/2023
1	Niemann-Pick Diseases (Niemann Pick Disease) 01/2023
1	Cardiac Edema 01/2023

Drug/Important Bio-Agent (IBA)

26	Proteins (Proteins, Gene)FDA Link 02/2024 - 04/2006
15	Polysaccharides (Glycans)IBA 01/2022 - 04/2006
11	Transferrin (beta 2 Transferrin)IBA 05/2020 - 12/2005
10	EnzymesIBA 01/2023 - 05/2013
9	Dystroglycans (Dystroglycan)IBA 01/2022 - 07/2009
8	LipidsIBA 01/2022 - 08/2011
5	Galactose (Galactopyranose)FDA LinkGeneric 05/2023 - 01/2020
5	N-Acetylneuraminic Acid (Sialic Acid)IBA 01/2023 - 01/2019
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	Mannose (D-Mannose)IBA 01/2022 - 07/2009
4	Phosphates (Orthophosphate)IBA 01/2022 - 07/2009
4	Congenital disorder of glycosylation type 1AIBA 01/2021 - 03/2013
3	Biomarkers (Surrogate Marker)IBA 01/2023 - 11/2014
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	AntibodiesIBA 02/2024 - 01/2019
2	FructoseIBA 09/2023 - 11/2019
2	CarbohydratesIBA 05/2023 - 01/2019
2	GlycogenIBA 05/2023 - 01/2018
2	SugarsIBA 05/2023 - 05/2023
2	Uridine Diphosphate Galactose (UDP Galactose)IBA 05/2023 - 01/2020
2	NucleotidesIBA 05/2023 - 01/2020
2	OligosaccharidesIBA 01/2023 - 12/2015
2	N-acetylneuraminate lyaseIBA 01/2023 - 12/2018
2	ApolipoproteinsIBA 01/2022 - 01/2019
2	RibitolIBA 01/2022 - 10/2019
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	LectinsIBA 01/2019 - 07/2015
2	Neuraminidase (Sialidase)IBA 01/2019 - 12/2007
2	AntigensIBA 01/2019 - 01/2019
2	Protein Isoforms (Isoforms)IBA 01/2019 - 02/2007
2	GlycolipidsIBA 01/2019 - 12/2018
2	CholesterolIBA 01/2019 - 06/2012
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	GlycopeptidesIBA 08/2023
1	ProteomeIBA 08/2023
1	alpha-N-acetyl-D-glucosaminidase (alpha-N-acetylglucosaminidase)IBA 05/2023
1	Glucosylceramidase (Glucocerebrosidase)IBA 01/2023

Therapy/Procedure

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