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patient protein level dialysis study sample allele l-asparaginase xpdttd peg-asparaginase dialysate sialic acid albumin disease / xpc sialic synthesis effect leukemic cells table figure signi response compound leukemia asparagine leukemic signi ficantly method blood lymphoblastic leukemia urine intracellular peg-asparaginase im appel serum children glucose concentration solution state excretion treatment protein losses albumin synthesis analysis control result interallelic complementation tfiih window repair fasting phenotype value ficantly glutamine responder infusion diagnosis range mutation quanti fication salla disease complementation reference ficant lymphoblastic amino-acid disorder reference values activity xpd xpcs plasma fibroblast change genet fsr-albumin mmol /mol creatinine interallelic van der ham
6 Most Recent Publications
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Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS
(Article)
Bosch, J. van den Oemardien, L.F. Srebniak, M. Piraud, M. Huijmans, J. Verheijen, F.W. Ruijter, G.J.G. |
2011-10-01
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Pharmacokinetic, pharmacodynamic and intracellular effects of PEG-asparaginase in newly diagnosed childhood acute lymphoblastic leukemia: Results from a single agent window study
(Article)
Appel, I.M. Kazemier, K.M. Boos, J. Lanvers, C. Huijmans, J. Veerman, A.J.P. Wering, E.R. van Boer, M.L. den Pieters, R. |
2008-06-30
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Peritoneal protein losses and cytokine generation in automated peritoneal dialysis with combined amino acids and glucose solutions
(Article)
Tjiong, H.L. Zijlstra, F.J. Rietveld, T. Wattimena, J.L. Huijmans, J. Swart, G.R. Fieren, M.W.J.A. |
2007-12-01
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Albumin and whole-body protein synthesis respond differently to intraperitoneal and oral amino acids
(Article)
Tjiong, H.L. Fieren, M.W.J.A. Rietveld, T. Wattimena, J.L. Schierbeek, H. Huijmans, J. Hop, W.C.J. Swart, G.R. Berg, J.W.O. van den |
2007-08-01
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Quantification of free and total sialic acid excretion by LC-MS/MS
(Article)
Ham, M. van der Prinsen, B.H. Huijmans, J. Abeling, N.G.G.M. Dorland, B. Berger, R. Koning, T.J. de Sain-van der Velden, M.G.M. de |
2007-04-01
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Rescue of progeria in trichothiodystrophy by homozygous lethal Xpd alleles.
(Article)
Andressoo, J.O. Jans, J. Boer, J. de Hoeijmakers, J.H.J. Horst, G.T.J. van der Mitchell, J.R. Egly, J-M. Wit, J. de Coin, F. Hoogstraten, D. Ven, H.W.M. van de Toussaint, W. Huijmans, J. Thio, H.B. Leeuwen, W.J. van |
2006-10-30
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