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Evaluation of a mass screening program for lysinuric protein intolerance in the northern part of Japan.
Koizumi A, Matsuura N, Inoue S, Utsunomiya M, Nozaki J, Inoue K, Takasago Y; Mass Screening Group. Koizumi A, et al. Genet Test. 2003 Spring;7(1):29-35. doi: 10.1089/109065703321560903. Genet Test. 2003. PMID: 12820699
Lysinuric protein intolerance (LPI:MIM 222700) is an autosomal recessive disease characterized by defective transport of the dibasic amino acids. We recently reported a local cluster of LPI in the northern part of Japan (Koizumi et al., 2000). Mutational analysis of …
Lysinuric protein intolerance (LPI:MIM 222700) is an autosomal recessive disease characterized by defective transport of the dibasic amino a …
[An overview of genetic analysis for neurosurgical diseases and disorders].
Koizumi A, Yamada S, Utsunomiya M, Inoue K, Yorifuji J, Nozaki K, Hashimoto N, Takenaka K, Iwama T, Suzuki M, Nomura S, Yamakawa H, Abe M, Tabuchi K, Matsuda M. Koizumi A, et al. No Shinkei Geka. 2004 Dec;32(12):1203-13. No Shinkei Geka. 2004. PMID: 15605690 Review. Japanese. No abstract available.
847 results