지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2013.1
- 수록면
- 274 - 278 (5page)
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Recently, lyso-globotriaosylsphingosine (lyso-Gb3) was found to be elevated in plasma of treatment naive male patients and some female patients with Fabry Disease (FD). This study tested whether lyso-Gb3 could be analyzed in dried blood spots (DBS) from filter cards and whether concentrations are elevated in newborn infants with FD. Lyso-Gb3 concentrations were analyzed in DBS following extraction using a novel HPLC-mass spectrometry (MS)/MS method. Lyso-Gb3 levels in DBS were above the lower limit of quantitation (0.28 ng/mL) in 5/17 newborn FD infants (16 males; range: 1.02-8.81 ng/mL), but in none of the newborn controls, in all 13 patients (4 males) with classic FD (range: 2.06-54.1ng/mL), in 125/159 Taiwanese individuals with symptomatic or asymptomatic FD who carry the late onset α-galactosidase A (GLA) mutation c.936+919G>A (IVS4+919G>A) (3.75±0.69 ng/mL; range: 0.418-3.97 ng/mL) and in 20/29 healthy controls (0.77±0.24 ng/mL;range: 0.507-1.4 ng/mL). The HPLC-MS/MS method for analysis of lyso-Gb3 is robust and yields reproducible results in DBS in patients with FD. However, concentrations of lyso-Gb3 were below the limit of quantitation in most newborn infants with FD rendering this approach not suitable for newborn screening. In addition, most females with the late onset mutation have undetectable lyso-Gb3 concentrations.
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참고문헌 (14)
참고문헌 신청
Adam BW / 2000 / Recoveries of phenylalanine from two sets of dried-blood-spot reference materials: prediction from hematocrit, spot volume, and paper matrix / Clin Chem 46
Aerts JM / 2008 / Elevated globotriaosylsphingosine is a hallmark of Fabry disease / Proc Natl Acad Sci U S A 105 : 2812 ~ 2817
Chace DH / 1999 / Validation of accuracy-based amino acid reference materials in dried-blood spots by tandem mass spectrometry for newborn screening assays / Clin Chem 45 :
Dajnoki A / 2010 / Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry / Clin Chim Acta 411 : 1428 ~ 1431
Fauler G / 2005 / Rapid determination of urinary globotriaosylceramide isoform profiles by electrospray ionization mass spectrometry using stearoyl-d35-globotriaosylceramide
Aerts JM / 2008 / Elevated globotriaosylsphingosine is a hallmark of Fabry disease / Proc Natl Acad Sci U S A 105 : 2812 ~ 2817
Chace DH / 1999 / Validation of accuracy-based amino acid reference materials in dried-blood spots by tandem mass spectrometry for newborn screening assays / Clin Chem 45 :
Dajnoki A / 2010 / Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry / Clin Chim Acta 411 : 1428 ~ 1431
Fauler G / 2005 / Rapid determination of urinary globotriaosylceramide isoform profiles by electrospray ionization mass spectrometry using stearoyl-d35-globotriaosylceramide
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