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Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders.
J Inherit Metab Dis. 2023 Mar;46(2):206-219. doi: 10.1002/jimd.12597. Epub 2023 Feb 28.
J Inherit Metab Dis. 2023.
PMID: 36752951
Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS.
van den Bosch J, Oemardien LF, Srebniak MI, Piraud M, Huijmans JG, Verheijen FW, Ruijter GJ.
van den Bosch J, et al.
J Inherit Metab Dis. 2011 Oct;34(5):1069-73. doi: 10.1007/s10545-011-9351-3. Epub 2011 May 27.
J Inherit Metab Dis. 2011.
PMID: 21617927
Free PMC article.
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Rapid ultraperformance liquid chromatography-tandem mass spectrometry assay for a characteristic glycogen-derived tetrasaccharide in Pompe disease and other glycogen storage diseases.
Sluiter W, van den Bosch JC, Goudriaan DA, van Gelder CM, de Vries JM, Huijmans JG, Reuser AJ, van der Ploeg AT, Ruijter GJ.
Sluiter W, et al. Among authors: van den bosch jc.
Clin Chem. 2012 Jul;58(7):1139-47. doi: 10.1373/clinchem.2011.178319. Epub 2012 May 23.
Clin Chem. 2012.
PMID: 22623745
Free article.
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Newborn screening for hunter disease: a small-scale feasibility study.
Ruijter GJ, Goudriaan DA, Boer AM, Van den Bosch J, Van der Ploeg AT, Elvers LH, Weinreich SS, Reuser AJ.
Ruijter GJ, et al.
JIMD Rep. 2014;14:23-7. doi: 10.1007/8904_2013_279. Epub 2013 Nov 23.
JIMD Rep. 2014.
PMID: 24272678
Free PMC article.
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Hexb enzyme deficiency leads to lysosomal abnormalities in radial glia and microglia in zebrafish brain development.
Kuil LE, López Martí A, Carreras Mascaro A, van den Bosch JC, van den Berg P, van der Linde HC, Schoonderwoerd K, Ruijter GJG, van Ham TJ.
Kuil LE, et al. Among authors: van den bosch jc.
Glia. 2019 Sep;67(9):1705-1718. doi: 10.1002/glia.23641. Epub 2019 May 29.
Glia. 2019.
PMID: 31140649
Free PMC article.
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Tagged IDS causes efficient and engraftment-independent prevention of brain pathology during lentiviral gene therapy for Mucopolysaccharidosis type II.
Catalano F, Vlaar EC, Katsavelis D, Dammou Z, Huizer TF, van den Bosch JC, Hoogeveen-Westerveld M, van den Hout HJMP, Oussoren E, Ruijter GJG, Schaaf G, Pike-Overzet K, Staal FJT, van der Ploeg AT, Pijnappel WWMP.
Catalano F, et al. Among authors: van den bosch jc.
Mol Ther Methods Clin Dev. 2023 Nov 2;31:101149. doi: 10.1016/j.omtm.2023.101149. eCollection 2023 Dec 14.
Mol Ther Methods Clin Dev. 2023.
PMID: 38033460
Free PMC article.
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