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Results: 1 to 20 of 138

1.

Methionine/galactose ratio on newborn blood spots useful for reduction of false positives for homocystinuria and galactosemia by high-performance anion-exchange chromatography with pulsed amperometric detection.

Lee JY, Sim HJ, Kwon HJ, Lee YM, Yoon HR, Hong SP.

Clin Chim Acta. 2012 Jan 18;413(1-2):182-6. doi: 10.1016/j.cca.2011.09.020. Epub 2011 Sep 17.

PMID:
21951896
[PubMed - indexed for MEDLINE]
2.

A pulsed amperometric detection method of galactose 1-phosphate for galactosemia diagnosis.

Jeong JS, Kwon HJ, Yoon HR, Lee YM, Choi TY, Hong SP.

Anal Biochem. 2008 May 15;376(2):200-5. doi: 10.1016/j.ab.2008.02.024. Epub 2008 Feb 29.

PMID:
18358226
[PubMed - indexed for MEDLINE]
3.

Simultaneous diagnostic method for phenylketonuria and galactosemia from dried blood spots using high-performance liquid chromatography-pulsed amperometric detection.

Kim NH, Jeong JS, Kwon HJ, Lee YM, Yoon HR, Lee KR, Hong SP.

J Chromatogr B Analyt Technol Biomed Life Sci. 2010 Jul 1;878(21):1860-4. doi: 10.1016/j.jchromb.2010.04.038. Epub 2010 May 5.

PMID:
20494631
[PubMed - indexed for MEDLINE]
4.

Development of a new diagnostic method for galactosemia by high-performance anion-exchange chromatography with pulsed amperometric detection.

Jeong JS, Yoon HR, Hong SP.

J Chromatogr A. 2007 Jan 26;1140(1-2):157-62. Epub 2006 Dec 11.

PMID:
17161845
[PubMed - indexed for MEDLINE]
5.

Rapid diagnosis of homocystinuria and other hypermethioninemias from newborns' blood spots by tandem mass spectrometry.

Chace DH, Hillman SL, Millington DS, Kahler SG, Adam BW, Levy HL.

Clin Chem. 1996 Mar;42(3):349-55.

PMID:
8598094
[PubMed - indexed for MEDLINE]
Free Article
6.

Determination of L-methionine using methionine-specific dehydrogenase for diagnosis of homocystinuria due to cystathionine β-synthase deficiency.

Yamasaki-Yashiki S, Tachibana S, Asano Y.

Anal Biochem. 2012 Sep 15;428(2):143-9. doi: 10.1016/j.ab.2012.06.019. Epub 2012 Jun 29.

PMID:
22750517
[PubMed - indexed for MEDLINE]
7.

Newborn screening for galactosemia by a second-tier multiplex enzyme assay using UPLC-MS/MS in dried blood spots.

Ko DH, Jun SH, Park KU, Song SH, Kim JQ, Song J.

J Inherit Metab Dis. 2011 Apr;34(2):409-14. doi: 10.1007/s10545-011-9291-y. Epub 2011 Feb 22.

PMID:
21340634
[PubMed - indexed for MEDLINE]
8.

Determination of total homocysteine in dried blood spots using high performance liquid chromatography for homocystinuria newborn screening.

Febriani AD, Sakamoto A, Ono H, Sakura N, Ueda K, Yoshii C, Kubota M, Yanagawa J.

Pediatr Int. 2004 Feb;46(1):5-9.

PMID:
15043656
[PubMed - indexed for MEDLINE]
9.

Neonatal screening for galactosemia by quantitative analysis of hexose monophosphates using tandem mass spectrometry: a retrospective study.

Jensen UG, Brandt NJ, Christensen E, Skovby F, Nørgaard-Pedersen B, Simonsen H.

Clin Chem. 2001 Aug;47(8):1364-72.

PMID:
11468223
[PubMed - indexed for MEDLINE]
Free Article
10.

Galactosemia screening by simultaneous blood spot quantification of galactose and galactose 1-phosphate.

Jeong JS, Kwon HJ, Lee YM, Yoon HR, Hong SP.

Clin Chem. 2008 Dec;54(12):2080-2. doi: 10.1373/clinchem.2008.107847. No abstract available.

PMID:
19042995
[PubMed - indexed for MEDLINE]
Free Article
11.

Newborn screening for galactosemia: a review of 5 years of data and audit of a revised reporting approach.

Freer DE, Ficicioglu C, Finegold D.

Clin Chem. 2010 Mar;56(3):437-44. doi: 10.1373/clinchem.2009.135947. Epub 2010 Jan 14.

PMID:
20075179
[PubMed - indexed for MEDLINE]
Free Article
12.

Reduction of false negative results in screening of newborns for homocystinuria.

Peterschmitt MJ, Simmons JR, Levy HL.

N Engl J Med. 1999 Nov 18;341(21):1572-6.

PMID:
10564686
[PubMed - indexed for MEDLINE]
Free Article
13.

Microassay for screening newborns for galactosemia with use of a fluorometric microplate reader.

Yamaguchi A, Fukushi M, Mizushima Y, Shimizu Y, Takasugi N, Arashima S, Ohyanagi K.

Clin Chem. 1989 Sep;35(9):1962-4.

PMID:
2776326
[PubMed - indexed for MEDLINE]
Free Article
14.

Multiplex enzyme assay for galactosemia using ultraperformance liquid chromatography-tandem mass spectrometry.

Ko DH, Jun SH, Park HD, Song SH, Park KU, Kim JQ, Song YH, Song J.

Clin Chem. 2010 May;56(5):764-71. doi: 10.1373/clinchem.2009.139618. Epub 2010 Mar 18.

PMID:
20299679
[PubMed - indexed for MEDLINE]
Free Article
15.

Galactosemia screening with low false-positive recall rate: the Swedish experience.

Ohlsson A, Guthenberg C, von Döbeln U.

JIMD Rep. 2012;2:113-7. doi: 10.1007/8904_2011_59. Epub 2011 Sep 6.

PMID:
23430863
[PubMed]
Free PMC Article
16.

Capillary electrophoresis with laser-induced fluorescence detection for laboratory diagnosis of galactosemia.

Easley CJ, Jin LJ, Presto Elgstoen KB, Jellum E, Landers JP, Ferrance JP.

J Chromatogr A. 2003 Jul 4;1004(1-2):29-37.

PMID:
12929958
[PubMed - indexed for MEDLINE]
17.

Newborn screening for homocystinuria: Irish and world experience.

Naughten ER, Yap S, Mayne PD.

Eur J Pediatr. 1998 Apr;157 Suppl 2:S84-7.

PMID:
9587032
[PubMed - indexed for MEDLINE]
19.

Determination of phenylalanine in blood by high-performance anion-exchange chromatography-pulsed amperometric detection to diagnose phenylketonuria.

Jeong JS, Sim HJ, Lee YM, Yoon HR, Lee DH, Hong SP.

J Chromatogr A. 2009 Jul 24;1216(30):5709-14. doi: 10.1016/j.chroma.2009.06.004. Epub 2009 Jun 7.

PMID:
19540504
[PubMed - indexed for MEDLINE]
20.

Minimizing false positive diagnoses in newborn screening for galactosemia.

Frazier DM, Clemons EH, Kirkman HN.

Biochem Med Metab Biol. 1992 Dec;48(3):199-211.

PMID:
1476788
[PubMed - indexed for MEDLINE]

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