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Items: 1 to 20 of 117

1.

Targeted metabolomic analysis of plasma samples for the diagnosis of inherited metabolic disorders.

Janečková H, Hron K, Wojtowicz P, Hlídková E, Barešová A, Friedecký D, Zídková L, Hornik P, Behúlová D, Procházková D, Vinohradská H, Pešková K, Bruheim P, Smolka V, Sťastná S, Adam T.

J Chromatogr A. 2012 Feb 24;1226:11-7. doi: 10.1016/j.chroma.2011.09.074. Epub 2011 Oct 4.

PMID:
22018716
2.

Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.

Han LS, Ye J, Qiu WJ, Gao XL, Wang Y, Gu XF.

J Inherit Metab Dis. 2007 Aug;30(4):507-14. Epub 2007 Mar 8.

PMID:
17347912
3.

[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry].

Han LS, Ye J, Qiu WJ, Gao XL, Wang Y, Jin J, Gu XF.

Zhonghua Yi Xue Za Zhi. 2008 Aug 5;88(30):2122-6. Chinese.

PMID:
19080473
5.

Aminoacidopathies and organic acidurias in Tunisia: a retrospective survey over 23 years.

Hadj-Taieb S, Nasrallah F, Hammami MB, Elasmi M, Sanhaji H, Moncef F, Kaabachi N.

Tunis Med. 2012 Mar;90(3):258-61.

PMID:
22481200
6.

A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry-rapid, practical, and simultaneous urinary metabolites analysis.

Matsumoto I, Kuhara T.

Mass Spectrom Rev. 1996;15(1):43-57. doi: 10.1002/(SICI)1098-2787(1996)15:1<43::AID-MAS3>3.0.CO;2-B. Review.

PMID:
27082169
7.

Diagnostic challenges of aminoacidopathies and organic acidemias in a developing country: a twelve-year experience.

Karam PE, Habbal MZ, Mikati MA, Zaatari GE, Cortas NK, Daher RT.

Clin Biochem. 2013 Dec;46(18):1787-92. doi: 10.1016/j.clinbiochem.2013.08.009. Epub 2013 Aug 28.

PMID:
23994778
8.

Untargeted metabolomic analysis of urine samples in the diagnosis of some inherited metabolic disorders.

Janeckova H, Kalivodova A, Najdekr L, Friedecky D, Hron K, Bruheim P, Adam T.

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2015 Dec;159(4):582-5. doi: 10.5507/bp.2014.048. Epub 2014 Nov 7.

9.

Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.

Jiang M, Liu L, Mei H, Li X, Cheng J, Cai Y.

J Pediatr Endocrinol Metab. 2015 Mar;28(3-4):375-80. doi: 10.1515/jpem-2014-0164.

PMID:
25781538
10.

Outcome of organic acidurias in China.

Yang Y, Yao Z, Song J, Hasegawa Y, Kimura M, Yamaguchi S, Jiang Y, Qin J, Wu X.

Ann Acad Med Singapore. 2008 Dec;37(12 Suppl):120-3.

11.
12.

Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan.

Niu DM, Chien YH, Chiang CC, Ho HC, Hwu WL, Kao SM, Chiang SH, Kao CH, Liu TT, Chiang H, Hsiao KJ.

J Inherit Metab Dis. 2010 Oct;33(Suppl 2):S295-305. doi: 10.1007/s10545-010-9129-z. Epub 2010 Jun 22.

PMID:
20567911
13.

Biochemical investigation of young hospitalized Chinese children: results over a 7-year period.

Pang CP, Law LK, Mak YT, Shek CC, Cheung KL, Mak TW, Lam CW, Chan AY, Fok TF.

Am J Med Genet. 1997 Nov 12;72(4):417-21.

PMID:
9375724
14.

[Combined use of tandem mass spectrometry with urine gas chromatography/mass spectrometry is useful for diagnosis of inborn errors of metabolism in children].

Xie LJ, Zhu JX, Zhu XD, Li HJ, Han LS, Gu XF.

Zhongguo Dang Dai Er Ke Za Zhi. 2008 Feb;10(1):31-4. Chinese.

PMID:
18289467
15.

Branched-chain organic acidurias.

Ogier de Baulny H, Saudubray JM.

Semin Neonatol. 2002 Feb;7(1):65-74. Review.

PMID:
12069539
16.

C6-C10-dicarboxylic aciduria: investigations of a patient with riboflavin responsive multiple acyl-CoA dehydrogenation defects.

Gregersen N, Wintzensen H, Christensen SK, Christensen MF, Brandt NJ, Rasmussen K.

Pediatr Res. 1982 Oct;16(10):861-8.

PMID:
7145508
17.

Selective screening for inborn errors of metabolism and secondary methylmalonic aciduria in pregnancy at high risk district of neural tube defects: a human metabolome study by GC-MS in China.

Song YZ, Li BX, Hao H, Xin RL, Zhang T, Zhang CH, Kobayashi K, Wang ZN, Zheng XY.

Clin Biochem. 2008 May;41(7-8):616-20. doi: 10.1016/j.clinbiochem.2008.01.025. Epub 2008 Feb 12.

PMID:
18291102
18.
19.

[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders].

Han LS, Ye J, Qiu WJ, Gao XL, Wang Y, Zhang YJ, Gu XF.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007 Dec;24(6):692-5. Chinese.

PMID:
18067086
20.

Evaluation of comprehensive two-dimensional gas chromatography coupled to time-of-flight mass spectrometry for the diagnosis of inherited metabolic disorders using an automated data processing strategy.

Wojtowicz P, Zrostlíková J, Kovalczuk T, Schůrek J, Adam T.

J Chromatogr A. 2010 Dec 17;1217(51):8054-61. doi: 10.1016/j.chroma.2010.09.067. Epub 2010 Oct 1.

PMID:
20961553

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