Screening for inborn errors of metabolism in high-risk children: a 3-year pilot study in Zhejiang Province, China-Reference-Cited by-同舟云学术

Screening for inborn errors of metabolism in high-risk children: a 3-year pilot study in Zhejiang Province, China

Published:2012-02-24 Issue:1 Volume:12 Page:
ISSN:1471-2431
Container-title:BMC Pediatrics
language:en
Short-container-title:BMC Pediatr

Author:

Huang Xinwen,Yang Lili,Tong Fan,Yang Rulai,Zhao Zhengyan

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Link

http://link.springer.com/article/10.1186/1471-2431-12-18/fulltext.html

Reference12 articles.

1. Wilcken B, Wiley V, Hammond J, Carpenter K: Screening Newborns for Inborn Errors of Metabolism by Tandem Mass Spectrometry. N Engl J Med. 2003, 348: 2304-2312. 10.1056/NEJMoa025225.

2. Yang L, Yin H, Yang R, Huang X: Diagnosis, treatment and outcome of glutaric aciduria type I in Zhejiang Province, China. Med Sci Monit. 2011, 17: 55-59.

3. Al-Dirbashi OY, Jacob M, Al-Amoudi M, Al-Kahtani K, Al-Odaib A, El-Badaoui F, Rashed MS: Quantification of glutaric and 3-hydroxyglutaric acids in urine of glutaric acidemia type I patients by HPLC with intramolecular excimer-forming fluorescence derivatization. Clin Chim Acta. 2005, 359: 179-188. 10.1016/j.cccn.2005.03.048.

4. Al-Dirbashi OY, Santa T, Al-Qahtani K, Al-Amoudi M, Rashed MS: Analysis of organic acid markers relevant to inherited metabolic diseases by ultra-performance liquid chromatography/tandem mass spectrometry as benzofurazan derivatives. Rapid Commun Mass Spectrom. 2007, 21: 1984-1990. 10.1002/rcm.3053.

5. Deodato F, Boenzi S, Rizzo C, Abeni D, Caviglia S, Picca S, Bartuli A, Dionisi-Vici C: Inborn errors of metabolism: an update on epidemiology and on neonatal-onset hyperammonemia. Acta Paediatr Suppl. 2004, 93: 18-21.

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