Author:
Lee J. Y.,Chiong M. A.,Estrada S. C.,Cutiongco-De la Paz E. M.,Silao C. L. T.,Padilla C. D.
Subject
Genetics(clinical),Genetics
Reference5 articles.
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3. Padilla CD, Masangkay SA (1992) Maple syrup urine disease: report of five cases. The Philippine Children’s Medical Center Journal 1: 111–114.
4. Padilla CD, Silao CLT, Lee JY (2001) Maple syrup urine disease: a report of 26 cases in the Philippines. In: Poh San L, Yap EPH, eds. Frontiers in Human Genetics Diseases and Technologies. Singapore: World Scientific Publishing Co., 185–193.
5. Silao CL, Padila CD, Matsuo M (2004). A novel deletion creating a new terminal exon of the dihydrolipoyl transacylase gene is a founder mutation of Filipino Maple syrup urine disease. Mol Genet Metab 81: 100–104. doi: 10.1016/j.ymgme.2003.10.006 .
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