Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria-Reference-Cited by-同舟云学术

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Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria

Published:2010-07-15 Issue:9 Volume:55 Page:621-626
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Liu Mei-Ying,Yang Yan-Ling,Chang Ying-Chen,Chiang Szu-Hui,Lin Shuan-Pei,Han Lian-Shu,Qi Yu,Hsiao Kwang-Jen,Liu Tze-Tze

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/jhg201081.pdf

Reference33 articles.

1. Fowler, B., Leonard, J. V. & Baumgartner, M. R. Causes of and diagnostic approach to methylmalonic acidurias. J. Inherit. Metab. Dis. 31, 350–360 (2008).

2. Rosenblatt, D. S., Aspler, A. L., Shevell, M. I., Pletcher, B. A., Fenton, W. A. & Seashore, M. R. Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC). J. Inherit. Metab. Dis. 20, 528–538 (1997).

3. Bodamer, O. A., Rosenblatt, D. S., Appel, S. H. & Beaudet, A. L. Adult-onset combined methylmalonic aciduria and homocystinuria (cblC). Neurology 56, 1113 (2001).

4. Roze, E., Gervais, D., Demeret, S., Ogier de Baulny, H., Zittoun, J., Benoist, J. F. et al. Neuropsychiatric disturbances in presumed late-onset cobalamin C disease. Arch. Neurol. 60, 1457–1462 (2003).

5. Tsai, A. C., Morel, C. F., Scharer, G., Yang, M., Lerner-Ellis, J. P., Rosenblatt, D. S. et al. Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance. Am. J. Med. Genet. A 143A, 2430–2434 (2007).

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