Quantitative analysis of urinary acylglycines for the diagnosis of β-oxidation defects using GC-NCI-MS

Autor: H.J. ten Brink, C.A.J.M. Jakobs, W.S. Guerand, I. Tavares de Almeida, C. G. Costa, E.A. Struys, Marinus Duran, U. Holwerda

Publikováno v: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Costa, C G, Guerand, W S, Struys, E A, Holwerda, U, ten Brink, H J, Tavares de Almeida, I, Duran, M & Jakobs, C A J M 2000, ' Quantitative analysis of urinary acylglycines for the diagnosis of beta-oxidation defects using GC-NCI-MS. ', Journal of Pharmaceutical and Biomedical Analysis, vol. 21, pp. 1215-1224 . https://doi.org/10.1016/S0731-7085(99)00235-6
Journal of Pharmaceutical and Biomedical Analysis, 21, 1215-1224. Elsevier

The analysis of acylglycines is an important biochemical tool for the diagnosis of inherited disorders of mitochondrial fatty acid P-oxidation. A stable isotope dilution gas chromatography negative chemical ionisation mass spectrometry method for the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c84f5623bb0a2d1f931aa0440ae57c62
https://doi.org/10.1016/s0731-7085(99)00235-6

Plasma creatinine assessment in creatine deficiency: A diagnostic pitfall

Autor: C.A.J.M. Jakobs, M.S. van der Knaap, A.A. Bouman, Eduard A. Struys, W.S. Guerand, Nanda M. Verhoeven

Publikováno v: Journal of Inherited Metabolic Disease, 23(8), 835-840. Springer Netherlands
Verhoeven, N M, Guérand, W S, Struys, E A, Bouman, A A, Van Der Knaap, M S & Jakobs, C 2000, ' Plasma creatinine assessment in creatine deficiency : A diagnostic pitfall ', Journal of Inherited Metabolic Disease, vol. 23, no. 8, pp. 835-840 . https://doi.org/10.1023/A:1026764703486

Guanidinoacetate methyltransferase (GAMT) deficiency (creatine deficiency syndrome) is a recently discovered inborn error of creatine biosynthesis. Affected patients have elevated concentrations of guanidinoacetate, the metabolic precursor of creatin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb90215f45ee5e09cbe1fbd09f308352
https://research.vumc.nl/en/publications/d06a0f71-cecb-40b9-9007-03f66464c9c2

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