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ALG8-CDG: novel patients and review of the literature.
Published in:
Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0289-7
By:
- Höck, Michaela;
- Wegleiter, Karina;
- Ralser, Elisabeth;
- Kiechl-Kohlendorfer, Ursula;
- Scholl-Bürgi, Sabine;
- Fauth, Christine;
- Steichen, Elisabeth;
- Pichler, Karin;
- Lefeber, Dirk J.;
- Matthjis, Gert;
- Keldermans, Liesbeth;
- Maurer, Kathrin;
- Zschocke, Johannes;
- Karall, Daniela
Publication type:
Article
ALG8-CDG: novel patients and review of the literature.
Published in:
2015
By:
- Höck, Michaela;
- Wegleiter, Karina;
- Ralser, Elisabeth;
- Kiechl-Kohlendorfer, Ursula;
- Scholl-Bürgi, Sabine;
- Fauth, Christine;
- Steichen, Elisabeth;
- Pichler, Karin;
- Lefeber, Dirk J;
- Matthjis, Gert;
- Keldermans, Liesbeth;
- Maurer, Kathrin;
- Zschocke, Johannes;
- Karall, Daniela
Publication type:
journal article
Clinical utility of chitotriosidase enzyme activity in nephropathic cystinosis.
Published in:
Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 155, doi. 10.1186/s13023-014-0155-z
By:
- Elmonem, Mohamed A;
- Makar, Samuel H;
- van den Heuvel, Lambertus;
- Abdelaziz, Hanan;
- Abdelrahman, Safaa M;
- Bossuyt, Xavier;
- Janssen, Mirian C;
- Cornelissen, Elisabeth AM;
- Lefeber, Dirk J;
- Joosten, Leo AB;
- Nabhan, Marwa M;
- Arcolino, Fanny O;
- Hassan, Fayza A;
- Gaide Chevronnay, Héloïse P;
- Soliman, Neveen A;
- Levtchenko, Elena
Publication type:
Article
Patients With Aldolase B Deficiency Are Characterized by Increased Intrahepatic Triglyceride Content.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2019, v. 104, n. 11, p. 5056, doi. 10.1210/jc.2018-02795
By:
- Simons, Nynke;
- Debray, François-Guillaume;
- C. Schaper, Nicolaas;
- Eline Kooi, M.;
- J. M. Feskens, Edith;
- E. M. Hollak, Carla;
- Lindeboom, Lucas;
- H. Koek, Ger;
- A. P. Bons, Judith;
- J. Lefeber, Dirk;
- Hodson, Leanne;
- G. Schalkwijk, Casper;
- D. A. Stehouwer, Coen;
- Cassiman, David;
- C. G. J. Brouwers, Martijn
Publication type:
Article
Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.
Published in:
International Journal of Molecular Sciences, 2023, v. 24, n. 10, p. 8632, doi. 10.3390/ijms24108632
By:
- Conte, Federica;
- Sam, Juda-El;
- Lefeber, Dirk J.;
- Passier, Robert
Publication type:
Article
In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis.
Published in:
International Journal of Molecular Sciences, 2023, v. 24, n. 9, p. 8247, doi. 10.3390/ijms24098247
By:
- Conte, Federica;
- Ashikov, Angel;
- Mijdam, Rachel;
- van de Ven, Eline G. P.;
- van Scherpenzeel, Monique;
- Veizaj, Raisa;
- Mahalleh-Yousefi, Seyed P.;
- Post, Merel A.;
- Huijben, Karin;
- Panneman, Daan M.;
- Rodenburg, Richard J. T.;
- Voermans, Nicol C.;
- Garanto, Alejandro;
- Koopman, Werner J. H.;
- Wessels, Hans J. C. T.;
- Noga, Marek J.;
- Lefeber, Dirk J.
Publication type:
Article
The GlycoPaSER Prototype as a Real-Time N-Glycopeptide Identification Tool Based on the PaSER Parallel Computing Platform.
Published in:
International Journal of Molecular Sciences, 2023, v. 24, n. 9, p. 7869, doi. 10.3390/ijms24097869
By:
- Armony, Gad;
- Brehmer, Sven;
- Srikumar, Tharan;
- Pfennig, Lennard;
- Zijlstra, Fokje;
- Trede, Dennis;
- Kruppa, Gary;
- Lefeber, Dirk J.;
- van Gool, Alain J.;
- Wessels, Hans J. C. T.
Publication type:
Article
Glycoproteomics in Cerebrospinal Fluid Reveals Brain-Specific Glycosylation Changes.
Published in:
International Journal of Molecular Sciences, 2023, v. 24, n. 3, p. 1937, doi. 10.3390/ijms24031937
By:
- Baerenfaenger, Melissa;
- Post, Merel A.;
- Langerhorst, Pieter;
- Huijben, Karin;
- Zijlstra, Fokje;
- Jacobs, Joannes F. M.;
- Verbeek, Marcel M.;
- Wessels, Hans J. C. T.;
- Lefeber, Dirk J.
Publication type:
Article
Dissecting Total Plasma and Protein-Specific Glycosylation Profiles in Congenital Disorders of Glycosylation.
Published in:
International Journal of Molecular Sciences, 2020, v. 21, n. 20, p. 7635, doi. 10.3390/ijms21207635
By:
- Hipgrave Ederveen, Agnes L.;
- de Haan, Noortje;
- Baerenfaenger, Melissa;
- Lefeber, Dirk J.;
- Wuhrer, Manfred
Publication type:
Article
Sugary Logistics Gone Wrong: Membrane Trafficking and Congenital Disorders of Glycosylation.
Published in:
International Journal of Molecular Sciences, 2020, v. 21, n. 13, p. 4654, doi. 10.3390/ijms21134654
By:
- Linders, Peter T. A.;
- Peters, Ella;
- ter Beest, Martin;
- Lefeber, Dirk J.;
- van den Bogaart, Geert
Publication type:
Article
Evaluation of Cell Models to Study Monocyte Functions in PMM2 Congenital Disorders of Glycosylation.
Published in:
Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.869031
By:
- de Haas, Paola;
- de Jonge, Marien I.;
- Koenen, Hans J. P. M.;
- Joosten, Ben;
- Janssen, Mirian C. H.;
- de Boer, Lonneke;
- Hendriks, Wiljan J. A. J.;
- Lefeber, Dirk J.;
- Cambi, Alessandra
Publication type:
Article
CDP-ribitol prodrug treatment ameliorates ISPD-deficient muscular dystrophy mouse model.
Published in:
Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-29473-4
By:
- Tokuoka, Hideki;
- Imae, Rieko;
- Nakashima, Hitomi;
- Manya, Hiroshi;
- Masuda, Chiaki;
- Hoshino, Shunsuke;
- Kobayashi, Kazuhiro;
- Lefeber, Dirk J.;
- Matsumoto, Riki;
- Okada, Takashi;
- Endo, Tamao;
- Kanagawa, Motoi;
- Toda, Tatsushi
Publication type:
Article
Fluorinated rhamnosides inhibit cellular fucosylation.
Published in:
Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-27355-9
By:
- Pijnenborg, Johan F. A.;
- Rossing, Emiel;
- Merx, Jona;
- Noga, Marek J.;
- Titulaer, Willem H. C.;
- Eerden, Nienke;
- Veizaj, Raisa;
- White, Paul B.;
- Lefeber, Dirk J.;
- Boltje, Thomas J.
Publication type:
Article
Three families with mild PMM2-CDG and normal cognitive development.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1620, doi. 10.1002/ajmg.a.38235
By:
- Vals, Mari‐Anne;
- Morava, Eva;
- Teeäär, Kai;
- Zordania, Riina;
- Pajusalu, Sander;
- Lefeber, Dirk J.;
- Õunap, Katrin
Publication type:
Article
Erratum to perinatal and early infantile symptoms in congenital disorders of glycosylation. Am J Med Genet Part A 161A: 578-584.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1618, doi. 10.1002/ajmg.a.36518
By:
- Funke, Simone;
- Gardeitchik, Thatjana;
- Kouwenberg, Dorus;
- Mohamed, Miski;
- Wortmann, Saskia;
- Korsch, Eckhard;
- Adamovicz, Maciej;
- Al‐Gazali, Lihadh;
- Wevers, Ron A.;
- Horvath, Adrien;
- Lefeber, Dirk J.;
- Morava, Eva
Publication type:
Article
Perinatal and early infantile symptoms in congenital disorders of glycosylation.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 578, doi. 10.1002/ajmg.a.35702
By:
- Funke, Simone;
- Gardeitchik, Thatjana;
- Kouwenberg, Dorus;
- Mohamed, Miski;
- Wortmann, Saskia B.;
- Korsch, Eckhard;
- Adamowicz, Maciej;
- Al‐Gazali, Lihadh;
- Wevers, Ron A.;
- Horvath, Adrienne;
- Lefeber, Dirk J.;
- Morava, Éva
Publication type:
Article
Readily Accessible Bicyclononynes for Bioorthogonal Labeling and Three-Dimensional Imaging of Living Cells.
Published in:
Angewandte Chemie, 2010, v. 122, n. 49, p. 9612, doi. 10.1002/ange.201003761
By:
- Dommerholt, Jan;
- Schmidt, Samuel;
- Temming, Rinske;
- Hendriks, Linda J. A.;
- Rutjes, Floris P. J. T.;
- van Hest, Jan C. M.;
- Lefeber, Dirk J.;
- Friedl, Peter;
- van Delft, Floris L.
Publication type:
Article
Transient desialylation in combination with a novel antithrombin deficiency causing a severe and recurrent thrombosis despite anticoagulation therapy.
Published in:
Scientific Reports, 2017, p. 44556, doi. 10.1038/srep44556
By:
- Revilla, Nuria;
- de la Morena-Barrio, María Eugenia;
- Miñano, Antonia;
- López-Gálvez, Raquel;
- Toderici, Mara;
- Padilla, José;
- García-Avello, Ángel;
- Lozano, María Luisa;
- Lefeber, Dirk J.;
- Corral, Javier;
- Vicente, Vicente
Publication type:
Article
A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses.
Published in:
PLoS ONE, 2015, v. 10, n. 9, p. 1, doi. 10.1371/journal.pone.0138622
By:
- Langereis, Eveline J.;
- Wagemans, Tom;
- Kulik, Wim;
- Lefeber, Dirk J.;
- van Lenthe, Henk;
- Oussoren, Esmee;
- van der Ploeg, Ans T.;
- Ruijter, George J.;
- Wevers, Ron A.;
- Wijburg, Frits A.;
- van Vlies, Naomi
Publication type:
Article
Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy.
Published in:
2016
By:
- Barba, Carmen;
- Darra, Francesca;
- Cusmai, Raffaella;
- Procopio, Elena;
- Dionisi Vici, Carlo;
- Keldermans, Liesbeth;
- Vuillaumier-Barrot, Sandrine;
- Lefeber, Dirk J;
- Guerrini, Renzo;
- CDG Group
Publication type:
journal article
Sialic acid biosynthesis pathway blockade disturbs neuronal network formation in human iPSC‐derived excitatory neurons.
Published in:
Journal of Neurochemistry, 2023, v. 167, n. 1, p. 76, doi. 10.1111/jnc.15934
By:
- Mijdam, Rachel;
- Bijnagte‐Schoenmaker, Chantal;
- Dyke, Emma;
- Moons, Sam J.;
- Boltje, Thomas J.;
- Nadif Kasri, Nael;
- Lefeber, Dirk J.
Publication type:
Article
A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 8, p. 844, doi. 10.1038/ejhg.2012.257
By:
- Iqbal, Zafar;
- Shahzad, Mohsin;
- Vissers, Lisenka E L M;
- van Scherpenzeel, Monique;
- Gilissen, Christian;
- Razzaq, Attia;
- Zahoor, Muhammad Yasir;
- Khan, Shaheen N;
- Kleefstra, Tjitske;
- Veltman, Joris A;
- de Brouwer, Arjan P M;
- Lefeber, Dirk J;
- van Bokhoven, Hans;
- Riazuddin, Sheikh
Publication type:
Article
Normal glycosylation screening does not rule out SRD5A3-CDG.
Published in:
2011
By:
- Mohamed, Miski;
- Cantagrel, Vincent;
- Al-Gazali, Lihadh;
- Wevers, Ron A;
- Lefeber, Dirk J;
- Morava, Eva
Publication type:
Letter
Reply to Leao-Teles et al.
Published in:
2010
By:
- Morava, Eva;
- Guillard, Maïlys;
- Lefeber, Dirk J.;
- Wevers, Ron A.
Publication type:
Letter
Autosomal recessive cutis laxa syndrome revisited.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1099, doi. 10.1038/ejhg.2009.22
By:
- Morava, Éva;
- Guillard, Maïlys;
- Lefeber, Dirk J.;
- Wevers, Ron A.
Publication type:
Article
A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia.
Published in:
European Journal of Human Genetics, 2007, v. 15, n. 6, p. 638, doi. 10.1038/sj.ejhg.5201813
By:
- Morava, Eva;
- Zeevaert, Renate;
- Korsch, Eckhard;
- Huijben, Karin;
- Wopereis, Suzan;
- Matthijs, Gert;
- Keymolen, Kathelijn;
- Lefeber, Dirk J.;
- de Meirleir, Linda;
- Wevers, Ron A.
Publication type:
Article
A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia.
Published in:
2007
By:
- Morava, Eva;
- Zeevaert, Renate;
- Korsch, Eckhard;
- Huijben, Karin;
- Wopereis, Suzan;
- Matthijs, Gert;
- Keymolen, Kathelijn;
- Lefeber, Dirk J;
- De Meirleir, Linda;
- Wevers, Ron A
Publication type:
Correction Notice
Synthesis of a hexasaccharide fragment of the capsular polysaccharide of Streptococcus pneumoniae type 3.
Published in:
Canadian Journal of Chemistry, 2002, v. 80, n. 1, p. 76, doi. 10.1139/v01-190
By:
- Lefeber, Dirk J;
- Arévalo, Eneko Aldaba;
- Kamerling, Johannis P;
- Vliegenthart, Johannes FG
Publication type:
Article
Desialylation of platelets induced by Von Willebrand Factor is a novel mechanism of platelet clearance in dengue.
Published in:
PLoS Pathogens, 2019, v. 15, n. 3, p. 1, doi. 10.1371/journal.ppat.1007500
By:
- Riswari, Silvita Fitri;
- Tunjungputri, Rahajeng N.;
- Kullaya, Vesla;
- Garishah, Fadel M.;
- Utari, Gloria S. R.;
- Farhanah, Nur;
- Overheul, Gijs J.;
- Alisjahbana, Bachti;
- Gasem, M. Hussein;
- Urbanus, Rolf T.;
- de Groot, Philip. G.;
- Lefeber, Dirk J.;
- van Rij, Ronald P.;
- van der Ven, Andre;
- de Mast, Quirijn
Publication type:
Article
Development of tools to facilitate the diagnosis of hereditary fructose intolerance.
Published in:
Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 5, p. 353, doi. 10.1002/jmd2.12379
By:
- Panis, Bianca;
- Janssen, Lise E. F.;
- Lefeber, Dirk J.;
- Simons, Nynke;
- Rubio‐Gozalbo, M. Estela;
- Brouwers, Martijn C. G. J.
Publication type:
Article
ATP6AP1‐CDG: Follow‐up and female phenotype.
Published in:
Journal of Inherited Metabolic Disease Reports, 2020, v. 53, n. 1, p. 80, doi. 10.1002/jmd2.12104
By:
- Lipiński, Patryk;
- Rokicki, Dariusz;
- Bogdańska, Anna;
- Lesiak, Justyna;
- Lefeber, Dirk J.;
- Tylki‐Szymańska, Anna
Publication type:
Article
A mutation in mannose‐phosphate‐dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy.
Published in:
Journal of Inherited Metabolic Disease Reports, 2019, v. 50, n. 1, p. 31, doi. 10.1002/jmd2.12060
By:
- Tol, Walinka;
- Ashikov, Angel;
- Korsch, Eckhard;
- Abu Bakar, Nurulamin;
- Willemsen, Michèl A.;
- Thiel, Christian;
- Lefeber, Dirk J.
Publication type:
Article
A common sugar-nucleotide-mediated mechanism of inhibition of (glycosamino)glycan biosynthesis, as evidenced by 6F-GalNAc (Ac<sub>3</sub>).
Published in:
FASEB Journal, 2015, v. 29, n. 7, p. 2993, doi. 10.1096/fj.14-264226
By:
- van Wijk, Xander M.;
- Lawrence, Roger;
- Thijssen, Victor L.;
- van den Broek, Sebastiaan A.;
- Troost, Ran;
- van Scherpenzee, Monique;
- Naidu, Natasha;
- Oosterhof, Arie;
- Griffioen, Arjan W.;
- Lefeber, Dirk J.;
- van Delft, Floris L.;
- van Kuppevelt, Toin H.
Publication type:
Article
Analysis of hemopexin plasma levels in patients with age-related macular degeneration.
Published in:
Molecular Vision, 2022, v. 28, p. 536
By:
- Lauwen, Susette;
- Bakker, Bjorn;
- de Jong, Eiko K.;
- Fauser, Sascha;
- Hoyng, Carel B.;
- Lefeber, Dirk J.;
- den Hollander, Anneke I.
Publication type:
Article
Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-LRibitol Pyrophosphorylase A Muscular Dystrophy.
Published in:
Clinical Chemistry, 2019, v. 65, n. 10, p. 1295, doi. 10.1373/clinchem.2019.305391
By:
- van Tol, Walinka;
- van Scherpenzeel, Monique;
- Alsady, Mohammad;
- Riemersma, Moniek;
- Hermans, Esther;
- Kragt, Else;
- Tasca, Giorgio;
- Kamsteeg, Erik-Jan;
- Pennings, Maartje;
- van Beusekom, Ellen;
- Vermeulen, Jeroen R.;
- van Bokhoven, Hans;
- Voermans, Nicol C.;
- Willemsen, Michèl A.;
- Ashikov, Angel;
- Lefeber, Dirk J.
Publication type:
Article
Protein-Specific Glycoprofiling for Patient Diagnostics.
Published in:
Clinical Chemistry, 2016, v. 62, n. 1, p. 9, doi. 10.1373/clinchem.2015.248518
By:
- Lefeber, Dirk J.
Publication type:
Article
Plasma N-Glycan Profiling by Mass Spectrometry for Congenital Disorders of Glycosylation Type II.
Published in:
Clinical Chemistry, 2011, v. 57, n. 4, p. 593, doi. 10.1373/clinchem.2010.153635
By:
- Guillard, Maïlys;
- Morava, Eva;
- van Delft, Floris L.;
- Hague, Rosie;
- Körner, Christian;
- Adamowicz, Maciej;
- Wevers, Ron A.;
- Lefeber, Dirk J.
Publication type:
Article
Wrinkled Skin and Fat Pads in Patients with ALG8-CDG: Revisiting Skin Manifestations in Congenital Disorders of Glycosylation.
Published in:
Pediatric Dermatology, 2014, v. 31, n. 1, p. e1, doi. 10.1111/pde.12233
By:
- Kouwenberg, Dorus;
- Gardeitchik, Thatjana;
- Mohamed, Miski;
- Lefeber, Dirk J.;
- Morava, Eva
Publication type:
Article
Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.
Published in:
Clinical Genetics, 2020, v. 97, n. 4, p. 556, doi. 10.1111/cge.13706
By:
- Panneman, Daan M.;
- Wortmann, Saskia B.;
- Haaxma, Charlotte A.;
- Hasselt, Peter M.;
- Wolf, Nicole I.;
- Hendriks, Yvonne;
- Küsters, Benno;
- Emst‐de Vries, Sjenet;
- Westerlo, Els;
- Koopman, Werner J.H.;
- Wintjes, Liesbeth;
- Brandt, Frans;
- Vries, Maaike;
- Lefeber, Dirk J.;
- Smeitink, Jan A.M.;
- Rodenburg, Richard J.
Publication type:
Article
D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial.
Published in:
2021
By:
- Witters, Peter;
- Andersson, Hans;
- Jaeken, Jaak;
- Tseng, Laura;
- van Karnebeek, Clara D. M.;
- Lefeber, Dirk J.;
- Cassiman, David;
- Morava, Eva
Publication type:
clinical trial
Synthesis of Fragments of the Glycocalyx Glycan of the Parasite Schistosoma mansoni.
Published in:
Chemistry - A European Journal, 2002, v. 8, n. 1, p. 151, doi. 10.1002/1521-3765(20020104)8:1<151::AID-CHEM151>3.0.CO;2-C
By:
- Ágoston, Károly;
- Kerékgyártó, János;
- Hajkó, János;
- Batta, Gyula;
- Lefeber, Dirk J.;
- Kamerling, Johannis P.;
- Vliegenthart, Johannes F. G.
Publication type:
Article
Synthesis of Streptococcus pneumoniae Type 3 Neoglycoproteins Varying in Oligosaccharide Chain Length, Loading and Carrier Protein.
Published in:
Chemistry - A European Journal, 2001, v. 7, n. 20, p. 4411, doi. 10.1002/1521-3765(20011015)7:20<4411::aid-chem4411>3.3.co;2-k
By:
- Lefeber, Dirk J.;
- Kamerling, Johannis P.;
- Vliegenthart, Johannes F. G.
Publication type:
Article
Oral sialic acid supplementation in NANS‐CDG: Results of a single center, open‐label, observational pilot study.
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 5, p. 956, doi. 10.1002/jimd.12643
By:
- den Hollander, Bibiche;
- Brands, Marion M.;
- de Boer, Lonneke;
- Haaxma, Charlotte A.;
- Lengyel, Anna;
- van Essen, Peter;
- Peters, Gera;
- Kwast, Hanneke J. T.;
- Klein, Willemijn M.;
- Coene, Karlien L. M.;
- Lefeber, Dirk J.;
- van Karnebeek, Clara D. M.
Publication type:
Article
Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit.
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 1, p. 66, doi. 10.1002/jimd.12554
By:
- Peters, Tessa M. A.;
- Merx, Jona;
- Kooijman, Pieter C.;
- Noga, Marek;
- de Boer, Siebolt;
- van Gemert, Loes A.;
- Salden, Guido;
- Engelke, Udo F. H.;
- Lefeber, Dirk J.;
- van Outersterp, Rianne E.;
- Berden, Giel;
- Boltje, Thomas J.;
- Artuch, Rafael;
- Pías‐Peleteiro, Leticia;
- García‐Cazorla, Ángeles;
- Barić, Ivo;
- Thöny, Beat;
- Oomens, Jos;
- Martens, Jonathan;
- Wevers, Ron A.
Publication type:
Article
Novel mRNA therapy restores GALT protein and enzyme activity in a zebrafish model of classic galactosemia.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 748, doi. 10.1002/jimd.12512
By:
- Delnoy, Britt;
- Haskovic, Minela;
- Vanoevelen, Jo;
- Steinbusch, Laura K. M.;
- Vos, Esther Naomi;
- Knoops, Kèvin;
- Zimmermann, Luc J. I.;
- Noga, Marek;
- Lefeber, Dirk J.;
- Martini, Paolo G. V.;
- Coelho, Ana I.;
- Rubio‐Gozalbo, Maria Estela
Publication type:
Article
Congenital disorders of glycosylation with defective fucosylation.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1441, doi. 10.1002/jimd.12426
By:
- Hüllen, Andreas;
- Falkenstein, Kristina;
- Weigel, Corina;
- Huidekoper, Hidde;
- Naumann‐Bartsch, Nora;
- Spenger, Johannes;
- Feichtinger, René G.;
- Schaefers, Jacqueline;
- Frenz, Stephanie;
- Kotlarz, Daniel;
- Momen, Tooba;
- Khoshnevisan, Razieh;
- Riedhammer, Korbinian M.;
- Santer, René;
- Herget, Theresia;
- Rennings, Alexander;
- Lefeber, Dirk J.;
- Mayr, Johannes A.;
- Thiel, Christian;
- Wortmann, Saskia B.
Publication type:
Article
Screening for abnormal glycosylation in a cohort of adult liver disease patients.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1310, doi. 10.1002/jimd.12273
By:
- Jansen, Jos C.;
- Hoek, Bart;
- Metselaar, Herold J.;
- Berg, Aad P.;
- Zijlstra, Fokje;
- Huijben, Karin;
- Scherpenzeel, Monique;
- Drenth, Joost P. H.;
- Lefeber, Dirk J.
Publication type:
Article
Nucleotide sugar profiles throughout development in wildtype and galt knockout zebrafish.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 994, doi. 10.1002/jimd.12265
By:
- Haskovic, Minela;
- Coelho, Ana I.;
- Lindhout, Martijn;
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- Veizaj, Raisa;
- Vos, Rein;
- Vanoevelen, Jo M.;
- Bierau, Jörgen;
- Lefeber, Dirk J.;
- Rubio‐Gozalbo, M. Estela
Publication type:
Article
Reduced CETP glycosylation and activity in patients with homozygous B4GALT1 mutations.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 611, doi. 10.1002/jimd.12200
By:
- Boogert, Marjolein A.W.;
- Crunelle, Cleo L.;
- Ali, Lubna;
- Larsen, Lars E.;
- Kuil, Sacha D.;
- Levels, Johannes H.M.;
- Schimmel, Alinda W.M.;
- Konstantopoulou, Vassiliki;
- Guerin, Maryse;
- Kuivenhoven, Jan Albert;
- Dallinga‐Thie, Geesje M.;
- Stroes, Erik S.G.;
- Lefeber, Dirk J.;
- Holleboom, Adriaan G.
Publication type:
Article
Toward understanding tissue‐specific symptoms in dolichol‐phosphate‐mannose synthesis disorders; insight from DPM3‐CDG.
Published in:
Journal of Inherited Metabolic Disease, 2019, v. 42, n. 5, p. 984, doi. 10.1002/jimd.12095
By:
- Tol, Walinka;
- Michelakakis, Helen;
- Georgiadou, Elissavet;
- Bergh, Peter;
- Moraitou, Marina;
- Papadimas, George K.;
- Papadopoulos, Constantinos;
- Huijben, Karin;
- Alsady, Mohammad;
- Willemsen, Michèl A.;
- Lefeber, Dirk J.
Publication type:
Article

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