AG&M - Inborn errors of metabolism

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Research Output 1999 2018

A novel method for quantitation of acylglycines in human dried blood spots by UPLC-tandem mass spectrometry

Fisher, L., Davies, C., Al-Dirbashi, O. Y., ten Brink, H. J., Chakraborty, P. & Lepage, N., 2018, In : Clinical Biochemistry. 54, p. 131-138

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Aspirin intake in the morning is associated with suboptimal platelet inhibition, as measured by serum Thromboxane B2, during infarct-prone early-morning hours

Racca, C., van Diemen, J. J. K., Fuijkschot, W. W., Spit, K., Bonten, T. N., Numans, M. E., van der Bom, J. G., Smulders, Y. M. & Thijs, A., 1 Jan 2018, (Accepted/In press) In : Platelets.

Research output: Contribution to journalArticleAcademicpeer-review

Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy

Mendes, M. I. , Salazar, M. G. , Guerrero, K. , Thiffault, I. , Salomons, G. S. , Gauquelin, L. , Tran, L. T. , Forget, D. , Gauthier, M-S. , Waisfisz, Q. , Smith, D. E. C. , Simons, C. , van der Knaap, M. S. , Marquardt, I. , Lemes, A. , Mierzewska, H. , Weschke, B. , Koehler, W. , Coulombe, B. , Wolf, N. I. & 1 others Bernard, G., 5 Apr 2018, In : American journal of human genetics. 102, 4, p. 676-684

Research output: Contribution to journalArticleAcademicpeer-review