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X
Lefeber, DJ
11  Ergebnisse:
Personensuche X
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1

Skeletal dysplasia with brachytelephalangy in a patient wit..:

Drijvers, JM ; Lefeber, DJ ; De Munnik, SA...
Clinical Genetics.  77 (2010)  5 - p. 507-509 , 2010
Link: https://doi.org/10.1111/..
 
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2

Impact of infection on proteome-wide glycosylation revealed..:

Willems, E ; Gloerich, J ; Suppers, A...
doi:10.1016/j.isci.2023.107257.  , 2023
Link: https://doi.org/10.1016/..
 
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3

Impact of infection on proteome-wide glycosylation revealed..:

Willems, E ; Gloerich, J ; Suppers, A...
iScience.  , 2023
Link: http://hdl.handle.net/10..
 
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4

Screening for abnormal glycosylation in a cohort of adult l..:

Jansen, JC (Jeroen) ; van Hoek, B ; Metselaar, Herold...
Jansen , JC , van Hoek , B , Metselaar , H , Berg , AP , Zijlstra , F , Huijben , K , Van Scherpenzeel , M , Drenth , JP & Lefeber , DJ 2020 , ' Screening for abnormal glycosylation in a cohort of adult liver disease patients ' , Journal of Inherited Metabolic Disease , vol. 43 , no. 6 , pp. 1310-1320 . https://doi.org/10.1002/jimd.12273.  , 2020
Link: https://pure.eur.nl/en/p..
 
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5

B3GLCT-catalyzed O-fucose glucosylation is not required for..:

Lauwen, S ; Lefeber, DJ ; de Jong, EK.
http://dx.doi.org/10.3205/19amd32.  , 2020
Link: https://doi.org/10.3205/..
 
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6

Patients with aldolase B deficiency are characterized by in..:

Simons, N ; Debray, FG ; Schaper, NC...
doi:10.1210/jc.2018-02795.  , 2020
Link: https://doi.org/10.1210/..
 
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7

B3GALNT2 mutations associated with non-syndromic autosomal ..:

Maroofian, R ; Riemersma, M ; Jae, LT...
https://openaccess.sgul.ac.uk/id/eprint/109527/1/B3GALNT2%20mutations.pdf.  , 2017
Link: https://openaccess.sgul...
 
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8

Missense mutations in-1,3-N-acetylglucosaminyltransferase 1..:

Buysse, K ; Riemersma, M ; Powell, G...
HUMAN MOLECULAR GENETICS.  , 2016
Link: http://qmro.qmul.ac.uk/x..
 
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9

Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenit..:

Carss, KJ ; Stevens, E ; Foley, AR...
AMERICAN JOURNAL OF HUMAN GENETICS.  , 2016
Link: http://qmro.qmul.ac.uk/x..
 
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10

Mutations in GDP-mannose pyrophosphorylase b cause congenit..:

Moore, SA ; Messina, S ; Bertini, E...
American Journal of Human Genetics.  , 2016
Link: http://qmro.qmul.ac.uk/x..
 
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11

B4GALT1-congenital disorders of glycosylation presents as a..:

Guillard, M ; Morava, E ; de Ruijter, Jorg...
Guillard , M , Morava , E , de Ruijter , J , Roscioli , T , Penzien , J , van , D H L , Willemsen , MA , de , B A , Bodamer , OA , Wevers , RA & Lefeber , DJ 2011 , ' B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement ' , The Journal of Pediatrics , vol. 159 , no. 6 , pp. 1041-1043.e2 . https://doi.org/10.1016/j.jpeds.2011.08.007.  , 2011
Link: https://cris.vtt.fi/en/p..
 
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