TY - GEN AU - Hara,K AU - Kashiwamata,S AU - Ogasawara,N AU - Ohishi,H AU - Natsume,R AU - Yamanaka,T AU - Hakamada,S AU - Miyazaki,S AU - Watanabe,K TI - A female case of the Leach-Nyhan syndrome SN - 0040-8727 PY - 1982///1021 KW - Adenine Phosphoribosyltransferase KW - metabolism KW - Erythrocytes KW - enzymology KW - Female KW - Fibroblasts KW - Heterozygote KW - Humans KW - Hypoxanthine Phosphoribosyltransferase KW - blood KW - Infant KW - Lesch-Nyhan Syndrome KW - Pedigree N1 - Publication Type: Case Reports; Journal Article UR - https://doi.org/10.1620/tjem.137.275 ER -