Huijmans JG - Search Results

1

Quantification of free sialic acid in urine by HPLC-electrospray tandem mass spectrometry: a tool for the diagnosis of sialic acid storage disease.

Valianpour F, Abeling NG, Duran M, Huijmans JG, Kulik W. Valianpour F, et al. Among authors: huijmans jg. Clin Chem. 2004 Feb;50(2):403-9. doi: 10.1373/clinchem.2003.027169. Epub 2003 Dec 18. Clin Chem. 2004. PMID: 14684624

2

Quantification of free and total sialic acid excretion by LC-MS/MS.

van der Ham M, Prinsen BH, Huijmans JG, Abeling NG, Dorland B, Berger R, de Koning TJ, de Sain-van der Velden MG. van der Ham M, et al. Among authors: huijmans jg. J Chromatogr B Analyt Technol Biomed Life Sci. 2007 Apr 1;848(2):251-7. doi: 10.1016/j.jchromb.2006.10.066. Epub 2006 Nov 22. J Chromatogr B Analyt Technol Biomed Life Sci. 2007. PMID: 17123874

3

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: huijmans jg. 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.

4

Amniotic fluid odd-chain fatty acids are increased in propionic acidaemia.

Coker M, Duran M, De Klerk JB, Kleijer WJ, Jakobs C, Huijmans JG. Coker M, et al. Among authors: huijmans jg. Prenat Diagn. 1996 Oct;16(10):941-4. doi: 10.1002/(SICI)1097-0223(199610)16:10<941::AID-PD965>3.0.CO;2-T. Prenat Diagn. 1996. PMID: 8938066

5

Plasma total odd-chain fatty acids in the monitoring of disorders of propionate, methylmalonate and biotin metabolism.

Coker M, de Klerk JB, Poll-The BT, Huijmans JG, Duran M. Coker M, et al. Among authors: huijmans jg. J Inherit Metab Dis. 1996;19(6):743-51. doi: 10.1007/BF01799166. J Inherit Metab Dis. 1996. PMID: 8982947

6

L-2-Hydroxyglutaric aciduria: normal L-2-hydroxyglutarate dehydrogenase activity in liver from two new patients.

Wanders RJ, Vilarinho L, Hartung HP, Hoffmann GF, Mooijer PA, Jansen GA, Huijmans JG, de Klerk JB, ten Brink HJ, Jakobs C, Duran M. Wanders RJ, et al. Among authors: huijmans jg. J Inherit Metab Dis. 1997 Sep;20(5):725-6. doi: 10.1023/a:1005355316599. J Inherit Metab Dis. 1997. PMID: 9323578 No abstract available.

7

Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene.

Huijmans JGM, Schot R, de Klerk JBC, Williams M, de Coo RFM, Duran M, Verheijen FW, van Slegtenhorst M, Mancini GMS. Huijmans JGM, et al. Am J Med Genet A. 2017 Jun;173(6):1601-1606. doi: 10.1002/ajmg.a.38240. Am J Med Genet A. 2017. PMID: 28544736

8

L-2-hydroxyglutaric aciduria: clinical heterogeneity versus biochemical homogeneity in a sibship.

de Klerk JB, Huijmans JG, Stroink H, Robben SG, Jakobs C, Duran M. de Klerk JB, et al. Among authors: huijmans jg. Neuropediatrics. 1997 Dec;28(6):314-7. doi: 10.1055/s-2007-973722. Neuropediatrics. 1997. PMID: 9453028

9

Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families.

Mancini GM, Catsman-Berrevoets CE, de Coo IF, Aarsen FK, Kamphoven JH, Huijmans JG, Duran M, van der Knaap MS, Jakobs C, Salomons GS. Mancini GM, et al. Among authors: huijmans jg. Am J Med Genet A. 2005 Jan 30;132A(3):288-95. doi: 10.1002/ajmg.a.30473. Am J Med Genet A. 2005. PMID: 15690373

10

Functional hyperactivity of hepatic glutamate dehydrogenase as a cause of the hyperinsulinism/hyperammonemia syndrome: effect of treatment.

Huijmans JG, Duran M, de Klerk JB, Rovers MJ, Scholte HR. Huijmans JG, et al. Pediatrics. 2000 Sep;106(3):596-600. doi: 10.1542/peds.106.3.596. Pediatrics. 2000. PMID: 10969108 Free article.

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