Wijburg, FA
18  Ergebnisse:
Personensuche X
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1

PP4.0 – 1506 Longitudinal outcomes from the international d..:

Pineda, M ; Mengel, E ; Wijburg, FA...
European Journal of Paediatric Neurology.  17 (2013)  - p. S39 , 2013
 
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4

Consensus guidelines for the diagnosis and management of py..:

Coughlin, CR ; Tseng, LA ; Abdenur, JE...
https://discovery.ucl.ac.uk/id/eprint/10115756/1/jimd.12332.pdf.  , 2021
 
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5

The 1-C-13 galactose breath test in GALT deficient patients..:

Welsink-Karssies, MM ; van Harskamp, D ; Ferdinandusse, S...
Welsink-Karssies , MM , van Harskamp , D , Ferdinandusse , S , Hollak , CEM , Huidekoper , H , Janssen , MCH , Kemper , EM , Langendonk , J , Rubio-Gozalbo , ME , de Vries , MC , Wijburg , FA , Schierbeek , H & Bosch , AM 2020 , ' The 1-C-13 galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes ' , Journal of Inherited Metabolic Disease , vol. 43 , no. 3 , pp. 507-517 . https://doi.org/10.1002/jimd.12207.  , 2020
 
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7

Proposal for an individualized dietary strategy in patients..:

Bleeker, JC ; Kok, IL ; Ferdinandusse, S...
Bleeker , JC , Kok , IL , Ferdinandusse , S , Vries , M , Derks , TGJ , Mulder , MF , Williams , M , Gozalbo , ER , Bosch , AM , van den Hurk , DT , de Sain-van der Velden , MGM , Waterham , HR , Wijburg , FA & Visser , G 2019 , ' Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency ' , Journal of Inherited Metabolic Disease , vol. 42 , no. 1 , pp. 159-168 . https://doi.org/10.1002/jimd.12037.  , 2019
 
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8

The attenuated end of the phenotypic spectrum in MPS III: f..:

Nijmeijer, SCM ; van den Born, LI ; Kievit, Anneke...
Nijmeijer , SCM , van den Born , LI , Kievit , A , Stepien , KM , Langendonk , J , Marchal , JP , Roosing , S , Wijburg , FA & Wagenmakers , M 2019 , ' The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype ' , Orphanet Journal of Rare Diseases , vol. 14 , no. 1 , 249 . https://doi.org/10.1186/s13023-019-1232-0.  , 2019
 
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9

Cognitive endpoints for therapy development for neuronopath..:

v.d. Lee, JH ; Morton, J ; Adams, HR...
v.d. Lee , JH , Morton , J , Adams , HR , Clarke , L , Ebbink , J , Escolar , ML , Giugliani , R , Harmatz , P , Hogan , M , Jones , S , Kearney , S , Muenzer , J , Rust , S , Semrud-Clikeman , M , Wijburg , FA , Yu , ZF , Janzen , D & Shapiro , E 2017 , ' Cognitive endpoints for therapy development for neuronopathic mucopolysaccharidoses: Results of a consensus procedure ' , Molecular Genetics and Metabolism , vol. 121 , no. 2 , pp. 70-79 . https://doi.org/10.1016/j.ymgme.2017.05.004.  , 2017
 
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10

Occurrence of subdural hematomas in Dutch glutaric aciduria..:

Vester, MEM ; Visser, G ; Wijburg, FA...
Vester , MEM , Visser , G , Wijburg , FA , van Spronsen , FJ , Williams , M & van Rijn , RR 2016 , ' Occurrence of subdural hematomas in Dutch glutaric aciduria type 1 patients ' , European Journal of Pediatrics , vol. 175 , no. 7 , pp. 1001-1006 . https://doi.org/10.1007/s00431-016-2734-6.  , 2016
 
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12

Residual N-acetyl-alpha-glucosaminidase activity in fibrobl..:

Meijer, OLM ; Welling, L ; Valstar, MJ...
Meijer , OLM , Welling , L , Valstar , MJ , Hoefsloot , EH , Brüggenwirth , H , van der Ploeg , A , Ruijter , G , Wagemans , T , Wijburg , FA & van Vlies , N 2016 , ' Residual N-acetyl-alpha-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB ' , Journal of Inherited Metabolic Disease , vol. 39 , no. 3 , pp. 437-445 . https://doi.org/10.1007/s10545-016-9916-2.  , 2016
 
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13

Characterization of Classical and Nonclassical Fabry Diseas..:

Arends, M ; Wanner, C ; Hughes, D...
https://discovery.ucl.ac.uk/id/eprint/1533735/1/Watkinson_Published%20version%20_%20v2.pdf.  , 2016
 
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