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Unusually mild phenotype of AADC deficiency in 2 siblings.
Tay SK, Poh KS, Hyland K, Pang YW, Ong HT, Low PS, Goh DL. Tay SK, et al. Among authors: low ps. Mol Genet Metab. 2007 Aug;91(4):374-8. doi: 10.1016/j.ymgme.2007.04.006. Epub 2007 May 29. Mol Genet Metab. 2007. PMID: 17533144
Spinal muscular atrophy: from gene discovery to clinical trials.
Nurputra DK, Lai PS, Harahap NI, Morikawa S, Yamamoto T, Nishimura N, Kubo Y, Takeuchi A, Saito T, Takeshima Y, Tohyama Y, Tay SK, Low PS, Saito K, Nishio H. Nurputra DK, et al. Among authors: low ps. Ann Hum Genet. 2013 Sep;77(5):435-63. doi: 10.1111/ahg.12031. Epub 2013 Jul 23. Ann Hum Genet. 2013. PMID: 23879295 Review.
565 results