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Items: 1 to 20 of 108

1.

Determination of urinary alpha-aminoadipic semialdehyde by LC-MS/MS in patients with congenital metabolic diseases.

Ferrer-López I, Ruiz-Sala P, Merinero B, Pérez-Cerdá C, Ugarte M.

J Chromatogr B Analyt Technol Biomed Life Sci. 2014 Jan 1;944:141-3. doi: 10.1016/j.jchromb.2013.10.032. Epub 2013 Nov 15.

PMID:
24316525
2.

Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency.

Mills PB, Footitt EJ, Ceyhan S, Waters PJ, Jakobs C, Clayton PT, Struys EA.

J Inherit Metab Dis. 2012 Nov;35(6):1031-6. doi: 10.1007/s10545-012-9466-1. Epub 2012 Mar 9.

PMID:
22403017
3.

Pyridoxine-dependent epilepsy with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency.

Struys EA, Nota B, Bakkali A, Al Shahwan S, Salomons GS, Tabarki B.

Pediatrics. 2012 Dec;130(6):e1716-9. doi: 10.1542/peds.2012-1094. Epub 2012 Nov 12.

4.

Simultaneous determination of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate and pipecolic acid by LC-MS/MS for pyridoxine-dependent seizures and folinic acid-responsive seizures.

Sadilkova K, Gospe SM Jr, Hahn SH.

J Neurosci Methods. 2009 Oct 30;184(1):136-41. doi: 10.1016/j.jneumeth.2009.07.019. Epub 2009 Jul 23.

PMID:
19631689
5.

Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS.

Jung S, Tran NT, Gospe SM Jr, Hahn SH.

Mol Genet Metab. 2013 Nov;110(3):237-40. doi: 10.1016/j.ymgme.2013.07.017. Epub 2013 Jul 26.

PMID:
23953072
6.

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).

Mills PB, Footitt EJ, Mills KA, Tuschl K, Aylett S, Varadkar S, Hemingway C, Marlow N, Rennie J, Baxter P, Dulac O, Nabbout R, Craigen WJ, Schmitt B, Feillet F, Christensen E, De Lonlay P, Pike MG, Hughes MI, Struys EA, Jakobs C, Zuberi SM, Clayton PT.

Brain. 2010 Jul;133(Pt 7):2148-59. doi: 10.1093/brain/awq143. Epub 2010 Jun 16.

7.

Determination of urinary S-sulphocysteine, xanthine and hypoxanthine by liquid chromatography-electrospray tandem mass spectrometry.

Rashed MS, Saadallah AA, Rahbeeni Z, Eyaid W, Seidahmed MZ, Al-Shahwan S, Salih MA, Osman ME, Al-Amoudi M, Al-Ahaidib L, Jacob M.

Biomed Chromatogr. 2005 Apr;19(3):223-30.

PMID:
15558695
8.

Quantitative urine amino acid analysis using liquid chromatography tandem mass spectrometry and aTRAQ reagents.

Held PK, White L, Pasquali M.

J Chromatogr B Analyt Technol Biomed Life Sci. 2011 Sep 15;879(26):2695-703. doi: 10.1016/j.jchromb.2011.07.030. Epub 2011 Jul 30.

PMID:
21852206
9.

The measurement of urinary Δ¹-piperideine-6-carboxylate, the alter ego of α-aminoadipic semialdehyde, in Antiquitin deficiency.

Struys EA, Bok LA, Emal D, Houterman S, Willemsen MA, Jakobs C.

J Inherit Metab Dis. 2012 Sep;35(5):909-16. doi: 10.1007/s10545-011-9443-0. Epub 2012 Jan 17.

10.

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.

J Chromatogr B Analyt Technol Biomed Life Sci. 2007 Apr 1;848(2):251-7. Epub 2006 Nov 22.

PMID:
17123874
11.

Identification of N-acetyl-alpha-aminoadipic acid in the urine of a patient with alpha-aminoadipic and alpha-ketoadipic aciduria.

Takechi T, Okada T, Wakiguchi H, Morita H, Kurashige T, Sugahara K, Kodama H.

J Inherit Metab Dis. 1993;16(1):119-26.

PMID:
8487492
12.

Detection of Δ4-3-oxo-steroid 5β-reductase deficiency by LC-ESI-MS/MS measurement of urinary bile acids.

Muto A, Takei H, Unno A, Murai T, Kurosawa T, Ogawa S, Iida T, Ikegawa S, Mori J, Ohtake A, Hoshina T, Mizuochi T, Kimura A, Hofmann AF, Hagey LR, Nittono H.

J Chromatogr B Analyt Technol Biomed Life Sci. 2012 Jul 1;900:24-31. doi: 10.1016/j.jchromb.2012.05.023. Epub 2012 May 24.

PMID:
22695323
13.

A novel liquid chromatography/tandem mass spectrometry method for the quantification of glycine as biomarker in brain microdialysis and cerebrospinal fluid samples within 5min.

Voehringer P, Fuertig R, Ferger B.

J Chromatogr B Analyt Technol Biomed Life Sci. 2013 Nov 15;939:92-7. doi: 10.1016/j.jchromb.2013.09.011. Epub 2013 Sep 14.

PMID:
24121745
14.

Determination of penciclovir in human plasma by liquid chromatography-electrospray ionization tandem mass spectrometry: application to a clinical pharmacokinetic study.

Kanneti R, Bhavesh D, Paramar D, Shivaprakash R, Bhatt PA.

Biomed Chromatogr. 2011 Apr;25(4):458-65. doi: 10.1002/bmc.1468.

PMID:
21374647
15.

Quantification of cyclizine and norcyclizine in human plasma by liquid chromatography-tandem mass spectrometry (LC-MS/MS).

Jensen BP, Vella-Brincat JW, Begg EJ.

J Chromatogr B Analyt Technol Biomed Life Sci. 2011 Mar 15;879(9-10):605-9. doi: 10.1016/j.jchromb.2011.01.021. Epub 2011 Feb 2.

PMID:
21333615
16.

Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option.

Pérez B, Gutiérrez-Solana LG, Verdú A, Merinero B, Yuste-Checa P, Ruiz-Sala P, Calvo R, Jalan A, Marín LL, Campos O, Ruiz MÁ, San Miguel M, Vázquez M, Castro M, Ferrer I, Navarrete R, Desviat LR, Lapunzina P, Ugarte M, Pérez-Cerdá C.

Epilepsia. 2013 Feb;54(2):239-48. doi: 10.1111/epi.12083. Epub 2013 Jan 25.

18.

Fast simultaneous quantitative analysis of FTY720 and its metabolite FTY720-P in human blood by on-line solid phase extraction coupled with liquid chromatography-tandem mass spectrometry.

Emotte C, Deglave F, Heudi O, Picard F, Kretz O.

J Pharm Biomed Anal. 2012 Jan 25;58:102-12. doi: 10.1016/j.jpba.2011.09.021. Epub 2011 Sep 24.

PMID:
22018890
19.

Quantification of levetiracetam in human plasma by liquid chromatography-tandem mass spectrometry: application to therapeutic drug monitoring.

Matar KM.

J Pharm Biomed Anal. 2008 Nov 4;48(3):822-8. doi: 10.1016/j.jpba.2008.05.035. Epub 2008 Jun 3.

PMID:
18603399
20.

Quantification of free sialic acid in human plasma through a robust quinoxalinone derivatization and LC-MS/MS using isotope-labeled standard calibration.

Wang D, Zhou X, Wang L, Wang S, Sun XL.

J Chromatogr B Analyt Technol Biomed Life Sci. 2014 Jan 1;944:75-81. doi: 10.1016/j.jchromb.2013.11.016. Epub 2013 Nov 14.

PMID:
24291723
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