Publications by authors named "Dirk J Lefeber"

100Publications

Dissecting Total Plasma and Protein-Specific Glycosylation Profiles in Congenital Disorders of Glycosylation.

Int J Mol Sci 2020 Oct 15;21(20). Epub 2020 Oct 15.

Center for Proteomics and Metabolomics, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, The Netherlands.

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http://dx.doi.org/10.3390/ijms21207635DOI Listing
October 2020

Sugary Logistics Gone Wrong: Membrane Trafficking and Congenital Disorders of Glycosylation.

Int J Mol Sci 2020 Jun 30;21(13). Epub 2020 Jun 30.

Tumor Immunology Lab, Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Geert Grooteplein 28, 6525 GA Nijmegen, The Netherlands.

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http://dx.doi.org/10.3390/ijms21134654DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7369703PMC
June 2020

Screening for abnormal glycosylation in a cohort of adult liver disease patients.

J Inherit Metab Dis 2020 Jun 18. Epub 2020 Jun 18.

Department of Neurology, Translational Metabolic Laboratory, Radboud University Medical Centre, Nijmegen, Netherlands.

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http://dx.doi.org/10.1002/jimd.12273DOI Listing
June 2020

Nucleotide sugar profiles throughout development in wildtype and galt knockout zebrafish.

J Inherit Metab Dis 2020 Sep 5;43(5):994-1001. Epub 2020 Jun 5.

Department of Pediatrics, Maastricht University Medical Center+, Maastricht, The Netherlands.

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http://dx.doi.org/10.1002/jimd.12265DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7540370PMC
September 2020

SRD5A3 defective congenital disorder of glycosylation: clinical utility gene card.

Eur J Hum Genet 2020 Sep 18;28(9):1297-1300. Epub 2020 May 18.

Department of Human Genetics, KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1038/s41431-020-0647-3DOI Listing
September 2020

ATP6AP1-CDG: Follow-up and female phenotype.

JIMD Rep 2020 May 9;53(1):80-82. Epub 2020 Apr 9.

Department of Pediatrics, Nutrition and Metabolic Diseases The Children's Memorial Health Institute Warsaw Poland.

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http://dx.doi.org/10.1002/jmd2.12104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7203642PMC
May 2020

Biallelic variants in SLC35C1 as a cause of isolated short stature with intellectual disability.

J Hum Genet 2020 Sep 21;65(9):743-750. Epub 2020 Apr 21.

Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.

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http://dx.doi.org/10.1038/s10038-020-0764-4DOI Listing
September 2020

Biological and Technical Challenges in Unraveling the Role of N-Glycans in Immune Receptor Regulation.

Front Chem 2020 5;8:55. Epub 2020 Feb 5.

Department of Cell Biology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, Netherlands.

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http://dx.doi.org/10.3389/fchem.2020.00055DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7013033PMC
February 2020

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.

Nat Commun 2020 01 30;11(1):595. Epub 2020 Jan 30.

Institute of Medical Biology, A*STAR, Biopolis, Singapore, 138648, Singapore.

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http://dx.doi.org/10.1038/s41467-020-14360-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6992768PMC
January 2020

A mutation in mannose-phosphate-dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy.

JIMD Rep 2019 Nov 30;50(1):31-39. Epub 2019 Sep 30.

Department of Neurology, Donders Institute for Brain, Cognition and Behavior Radboud University Medical Center Nijmegen The Netherlands.

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http://dx.doi.org/10.1002/jmd2.12060DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6850978PMC
November 2019

Clinical glycomics in the diagnostic laboratory.

Ann Transl Med 2019 Sep;7(Suppl 6):S220

Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.21037/atm.2019.08.74DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6789374PMC
September 2019

Clinical Utility Gene Card for: PGM3 defective congenital disorder of glycosylation.

Eur J Hum Genet 2019 11 23;27(11):1757-1760. Epub 2019 Jun 23.

Department of Human Genetics, KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1038/s41431-019-0453-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6871091PMC
November 2019

Activity of N-acylneuraminate-9-phosphatase (NANP) is not essential for de novo sialic acid biosynthesis.

Biochim Biophys Acta Gen Subj 2019 10 20;1863(10):1471-1479. Epub 2019 May 20.

Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525, GA, Nijmegen, the Netherlands; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525, GA, Nijmegen, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.bbagen.2019.05.011DOI Listing
October 2019

Toward understanding tissue-specific symptoms in dolichol-phosphate-mannose synthesis disorders; insight from DPM3-CDG.

J Inherit Metab Dis 2019 09 23;42(5):984-992. Epub 2019 Apr 23.

Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/jimd.12095DOI Listing
September 2019

O-glycosylation disorders pave the road for understanding the complex human O-glycosylation machinery.

Curr Opin Struct Biol 2019 06 30;56:107-118. Epub 2019 Jan 30.

Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.sbi.2018.12.006DOI Listing
June 2019

Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency.

Transl Res 2018 09 10;199:62-76. Epub 2018 May 10.

Department of Neurology and Translational Metabolic Laboratory, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.trsl.2018.04.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7041963PMC
September 2018

Clinical Utility Gene Card For: GALNT3 defective congenital disorder of glycosylation.

Eur J Hum Genet 2018 08 23;26(8):1230-1233. Epub 2018 Apr 23.

Department of Human Genetics, KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1038/s41431-017-0002-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057978PMC
August 2018

NAFLD Phenotype in Patients With V-ATPase Proton Pump Assembly Defects.

Cell Mol Gastroenterol Hepatol 2018 Mar 18;5(3):415-417.e1. Epub 2018 Jan 18.

Translational Metabolic Laboratory, Radboud Institute for Molecular Life Sciences, Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.jcmgh.2017.12.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5904036PMC
March 2018

Clinical glycomics for the diagnosis of congenital disorders of glycosylation.

J Inherit Metab Dis 2018 05 1;41(3):499-513. Epub 2018 Mar 1.

Translational Metabolic Laboratory, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Geert Grooteplein 10, Nijmegen, 6525 DA, The Netherlands.

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http://dx.doi.org/10.1007/s10545-018-0144-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5959975PMC
May 2018

Congenital disorders of glycosylation (CDG): Quo vadis?

Eur J Med Genet 2018 Nov 25;61(11):643-663. Epub 2017 Oct 25.

Center for Metabolic Diseases, KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2017.10.012DOI Listing
November 2018

ALG13-CDG with Infantile Spasms in a Male Patient Due to a De Novo ALG13 Gene Mutation.

JIMD Rep 2018 9;40:11-16. Epub 2017 Sep 9.

Department of Neurology/Pediatric Neurology, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/8904_2017_53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6122024PMC
September 2017

Early and lethal neurodegeneration with myasthenic and myopathic features: A new -CDG.

Neurology 2017 Aug 21;89(7):657-664. Epub 2017 Jul 21.

From the Division of Neuropaediatrics and Muscle Disorders (D.C.S., R.K., M. Beytia, J.K.) and Center of Pediatric and Adolescent Medicine (M.K.), Faculty of Medicine, Medical Center, University of Freiburg; Department of Human Genetics (S.R., C.R.M., M. Beytia), Biozentrum, University of Würzburg, Germany; Department of Neurology, Translational Metabolic Laboratory, Donders Institute for Brain, Cognition and Behavior (D.J.L.), and Radboud Center for Mitochondrial Medicine, Department of Pediatrics (R.J.R.), Radboud University Medical Center, Nijmegen, the Netherlands; Department of Pediatrics (Neuromuscular and Neurometabolic Disorders) (L.B., M.T.), McMaster Children's Hospital, Hamilton, Canada; Neuromuscular and Neurogenetic Disorders of Childhood Section (C.G.B.), National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD; Departments of Child Neurology (M. Bugiani, M.v.d.K.) and Pathology (M. Bugiani), VU University Medical Center; and Department of Functional Genomics (M.v.d.K.), VU University, Amsterdam Neuroscience, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000004234DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5562963PMC
August 2017

Omics Biomarkers in Ophthalmology.

Invest Ophthalmol Vis Sci 2017 05;58(6):BIO88-BIO98

Department of Ophthalmology, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands 4Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1167/iovs.17-21809DOI Listing
May 2017

Three families with mild PMM2-CDG and normal cognitive development.

Am J Med Genet A 2017 Jun 19;173(6):1620-1624. Epub 2017 Apr 19.

Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.

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http://dx.doi.org/10.1002/ajmg.a.38235DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5444958PMC
June 2017

Transient desialylation in combination with a novel antithrombin deficiency causing a severe and recurrent thrombosis despite anticoagulation therapy.

Sci Rep 2017 03 17;7:44556. Epub 2017 Mar 17.

Centro Regional de Hemodonación. Servicio de Hematología y Oncología Médica. Hospital Universitario Morales Meseguer. IMIB-Arrixaca. Universidad de Murcia, Murcia, Spain.

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http://dx.doi.org/10.1038/srep44556DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5355981PMC
March 2017

Clinical utility gene card for: B4GALT7-defective congenital disorder of glycosylation.

Eur J Hum Genet 2017 02 9;25(2). Epub 2016 Nov 9.

Department of Human Genetics, Centre for Human Genetics, KULeuven, Leuven, Belgium.

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http://dx.doi.org/10.1038/ejhg.2016.151DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5255951PMC
February 2017

Fast, robust and high-resolution glycosylation profiling of intact monoclonal IgG antibodies using nanoLC-chip-QTOF.

Clin Chim Acta 2016 Oct 22;461:90-7. Epub 2016 Jul 22.

Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboudumc, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2016.07.015DOI Listing
October 2016

Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy.

Dev Med Child Neurol 2016 10 13;58(10):1085-91. Epub 2016 May 13.

Pediatric Neurology Unit and Laboratories, A. Meyer Children's Hospital - University of Florence, Florence, Italy.

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http://dx.doi.org/10.1111/dmcn.13141DOI Listing
October 2016

Clinical utility gene card for: Peters plus syndrome.

Eur J Hum Genet 2016 08 6;24(8). Epub 2016 Apr 6.

Centre for Human Genetics, KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1038/ejhg.2016.32DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4970696PMC
August 2016

Clinical diagnostics and therapy monitoring in the congenital disorders of glycosylation.

Glycoconj J 2016 06 7;33(3):345-58. Epub 2016 Jan 7.

Translational Metabolic Laboratory, Radboud University Medical Center, Geert Grooteplein 10, Nijmegen, 6525 GA, The Netherlands.

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http://dx.doi.org/10.1007/s10719-015-9639-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4891361PMC
June 2016

Genetic defects in the hexosamine and sialic acid biosynthesis pathway.

Biochim Biophys Acta 2016 Aug 22;1860(8):1640-54. Epub 2015 Dec 22.

Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Centre, Box 9101, 6500 HB Nijmegen, The Netherlands; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboudumc Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.bbagen.2015.12.017DOI Listing
August 2016

Human ISPD Is a Cytidyltransferase Required for Dystroglycan O-Mannosylation.

Chem Biol 2015 Dec 10;22(12):1643-52. Epub 2015 Dec 10.

Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.chembiol.2015.10.014DOI Listing
December 2015

Protein-Specific Glycoprofiling for Patient Diagnostics.

Authors:
Dirk J Lefeber

Clin Chem 2016 Jan 19;62(1):9-11. Epub 2015 Nov 19.

Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands.

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http://dx.doi.org/10.1373/clinchem.2015.248518DOI Listing
January 2016

Clinical utility gene card for: MAN1B1 defective congenital disorder of glycosylation.

Eur J Hum Genet 2016 07 18;24(7). Epub 2015 Nov 18.

Centre for Human Genetics, KULeuven, Leuven, Belgium.

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http://dx.doi.org/10.1038/ejhg.2015.248DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5070899PMC
July 2016

A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses.

PLoS One 2015 25;10(9):e0138622. Epub 2015 Sep 25.

Department of Pediatric Metabolic Diseases, Emma Children's Hospital and Amsterdam Lysosome Center 'Sphinx', Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands; Laboratory for Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0138622PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4583541PMC
May 2016

N-Glycosylation of Serum IgG and Total Glycoproteins in MAN1B1 Deficiency.

J Proteome Res 2015 Oct 24;14(10):4402-12. Epub 2015 Sep 24.

NIBRT GlycoScience Group, National Institute for Bioprocessing Research and Training , Fosters Avenue, Mount Merrion, Blackrock, Dublin 4, Ireland.

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http://dx.doi.org/10.1021/acs.jproteome.5b00709DOI Listing
October 2015

High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation.

Transl Res 2015 Dec 8;166(6):639-649.e1. Epub 2015 Aug 8.

Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.trsl.2015.07.005DOI Listing
December 2015

Sialic Acid Glycoengineering Using an Unnatural Sialic Acid for the Detection of Sialoglycan Biosynthesis Defects and On-Cell Synthesis of Siglec Ligands.

ACS Chem Biol 2015 Oct 10;10(10):2353-63. Epub 2015 Aug 10.

Cluster for Molecular Chemistry, Institute for Molecules and Materials, Radboud University Nijmegen , Heyendaalseweg 135, 6525 AJ Nijmegen, The Netherlands.

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http://dx.doi.org/10.1021/acschembio.5b00501DOI Listing
October 2015

ALG8-CDG: novel patients and review of the literature.

Orphanet J Rare Dis 2015 Jun 12;10:73. Epub 2015 Jun 12.

Medical University of Innsbruck, Clinic for Pediatrics I, Inherited Metabolic Disorders, Anichstrasse 35, 6020, Innsbruck, Austria.

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http://dx.doi.org/10.1186/s13023-015-0289-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4504351PMC
June 2015

Absence of α- and β-dystroglycan is associated with Walker-Warburg syndrome.

Neurology 2015 May 1;84(21):2177-82. Epub 2015 May 1.

From the Department of Neurology (M.R., D.J.L., M.A.W.), Translational Metabolic Laboratory, Department of Laboratory Medicine (M.R., D.J.L., R.A.W.), Department of Human Genetics, Radboud Institute for Molecular Life Sciences (M.R., E.v.B., T.R., L.E.V., H.v.B.), and Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behaviour (H.v.B.), Radboud University Medical Center, Nijmegen, the Netherlands; Metabolic Unit, Department of Pediatrics (H.M.), and Institute of Human Genetics (R.G.-B.), Rambam Health Care Campus, and the Rappaport Faculty of Medicine, Techion-Israel Institute of Technology, Haifa; Department of Human Genetics (I.G.), Leiden University Medical Center, the Netherlands; Department of Medical Genetics (T.R.), Sydney Children's Hospital, University of New South Wales, Sydney, Australia; Department of Diagnostic Imaging (A.E.), Rambam Health Care Campus, Haifa; and Department of Molecular Genetics (M.G., S.P.), Weizmann Institute of Science, Rehovot, Israel.

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http://dx.doi.org/10.1212/WNL.0000000000001615DOI Listing
May 2015

A common sugar-nucleotide-mediated mechanism of inhibition of (glycosamino)glycan biosynthesis, as evidenced by 6F-GalNAc (Ac3).

FASEB J 2015 Jul 13;29(7):2993-3002. Epub 2015 Apr 13.

*Department of Biochemistry, Radboud Institute for Molecular Life Sciences, Department of Synthetic Organic Chemistry, Institute for Molecules and Materials, and Department of Neurology, Laboratory for Genetic, Endocrine and Metabolic Disease, Radboud University Medical Centre, Nijmegen, The Netherlands; Department of Cellular and Molecular Medicine, Glycobiology Research and Training Center, and Glycotechnology Core, University of California San Diego, San Diego, California, USA; and Angiogenesis Laboratory, Department of Medical Oncology, VU University Medical Centre, Amsterdam, The Netherlands

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http://dx.doi.org/10.1096/fj.14-264226DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478805PMC
July 2015

MALDI-TOF MS applied to apoC-III glycoforms of patients with congenital disorders affecting O-glycosylation. Comparison with two-dimensional electrophoresis.

Proteomics Clin Appl 2015 Aug 24;9(7-8):787-93. Epub 2015 Mar 24.

EA4530, Dynamique des microtubules en physiopathologie, Faculté de Pharmacie, Université Paris-Sud, Châtenay-Malabry, France.

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http://dx.doi.org/10.1002/prca.201400187DOI Listing
August 2015

Disease mutations in CMP-sialic acid transporter SLC35A1 result in abnormal α-dystroglycan O-mannosylation, independent from sialic acid.

Hum Mol Genet 2015 Apr 30;24(8):2241-6. Epub 2014 Dec 30.

Department of Neurology, Translational Metabolic Laboratory, Department of Laboratory Medicine,

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http://dx.doi.org/10.1093/hmg/ddu742DOI Listing
April 2015

Genetic defects in dolichol metabolism.

J Inherit Metab Dis 2015 Jan 1;38(1):157-69. Epub 2014 Oct 1.

Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Pawinskiego 5a, 02-106, Warsaw, Poland.

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http://dx.doi.org/10.1007/s10545-014-9760-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4281381PMC
January 2015

Defining the phenotype and diagnostic considerations in adults with congenital disorders of N-linked glycosylation.

Expert Rev Mol Diagn 2014 Mar 13;14(2):217-24. Epub 2014 Feb 13.

Hayward Genetics Center, Tulane University Medical School, New Orleans, LA, 70112, USA.

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http://dx.doi.org/10.1586/14737159.2014.890052DOI Listing
March 2014

Perinatal and early infantile symptoms in congenital disorders of glycosylation.

Am J Med Genet A 2013 Mar 7;161A(3):578-84. Epub 2013 Feb 7.

Hayward Genetics Center, Tulane University Medical Center, New Orleans, Louisiana, USA.

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http://dx.doi.org/10.1002/ajmg.a.35702DOI Listing
March 2013

Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations.

Pediatrics 2012 Oct 10;130(4):e1034-9. Epub 2012 Sep 10.

Department of Pediatrics at the Institute for Genetic and Metabolic Diseases, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1542/peds.2011-2711DOI Listing
October 2012

Thyroid function in PMM2-CDG: diagnostic approach and proposed management.

Mol Genet Metab 2012 Apr 13;105(4):681-3. Epub 2012 Feb 13.

Department of Pediatrics, Radboud University Nijmegen Medical Center, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2012.02.001DOI Listing
April 2012

B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement.

J Pediatr 2011 Dec 13;159(6):1041-3.e2. Epub 2011 Sep 13.

Department of Laboratory Medicine, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.jpeds.2011.08.007DOI Listing
December 2011

Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency.

Mol Genet Metab 2011 Dec 26;104(4):691-4. Epub 2011 Aug 26.

Department of Pediatrics, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Center, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2011.08.021DOI Listing
December 2011

Protein enrichment by capture-release based on strain-promoted cycloaddition of azide with bicyclononyne (BCN).

Bioorg Med Chem 2012 Jan 3;20(2):655-61. Epub 2011 Aug 3.

Institute for Molecules and Materials, Radboud University Nijmegen, Heijendaalseweg 135, 6525 AJ Nijmegen, The Netherlands.

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http://linkinghub.elsevier.com/retrieve/pii/S096808961100598
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http://dx.doi.org/10.1016/j.bmc.2011.07.049DOI Listing
January 2012