Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan-Reference-Cited by-同舟云学术

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

Published:2010-06-22 Issue:S2 Volume:33 Page:295-305
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Niu Dau-Ming,Chien Yin-Hsiu,Chiang Chuan-Chi,Ho Hui-Chen,Hwu Wuh-Liang,Kao Shu-Min,Chiang Szu-Hui,Kao Chuan-Hong,Liu Tze-Tze,Chiang Hung,Hsiao Kwang-Jen

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/s10545-010-9129-z

Reference30 articles.

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2. Browning MF, Larson C, Strauss A, Marsden DL (2005) Normal acylcarnitine levels during confirmation of abnormal newborn screening in long-chain fatty acid oxidation defects. J Inherit Metab Dis 28:545–550

3. Cheng KH, Hung MC, Chen SJ, Kao CH, Niu DM (2007) Lenticular subluxation in a patient with homocystinuria undetected by neonatal screening. J Chin Med Assoc 70:562–564

4. Chi CS, Tsai CR, Chen LH, Lee HF, Mak BS, Yang SH, Wang TY, Shu SG, Chen CH (2003) Maple syrup urine disease in the Austronesian aboriginal tribe Paiwan of Taiwan: a novel DBT (E2) gene 4.7 kb founder deletion caused by a nonhomologous recombination between LINE-1 and Alu and the carrier-frequency determination. Eur J Hum Genet 11:931–6

5. Chiang SH, Hsiao KJ (2005) Developments of neonatal screening in Taiwan. International Conference on Medicine and Promoting Healthcare for Rare Disorders, pp 10–11

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