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- Clinical manifestations and treatment of Menkes disease and its variants.Pediatr Int. 1999; 41: 423-429
- Menkes' X-linked disease: prenatal diagnosis and carrier detection.J Inherit Metab Dis. 1983; 6: 59-62
- Accumulated experience with prenatal diagnosis of Menkes disease by neutron activation analysis of chorionic villi specimens.Biol Trace Elem Res. 1999; 71–72: 551-561
- ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome.Am J Med Genet. 2001; 99: 217-222
- Identification of three novel mutations in the MNK gene in three unrelated Japanese patients with classical Menkes disease.J Hum Genet. 1999; 44: 206-209
- Mutation spectrum of ATP7A, the gene defective in Menkes disease.Adv Exp Med Biol. 1999; 448: 83-95
- Genetic variation in populations.in: Nussbaum R.L. McInnes R.R. Willard H.F. Thompson and Thompson genetics in medicine. 6th ed. W.B. Saunders, Philadelphia, PA2001: 95-105
- Prenatal diagnosis of Menkes disease by mutation analysis.J Inher Metab Dis. 1995; 18: 364-365
- First trimester prenatal diagnosis of Menkes disease by DNA analysis.J Med Genet. 1994; 31: 615-617
- Menkes disease: recent advances and new aspects.J Med Genet. 1997; 34: 265-274
☆Contract grant sponsor: Ministry of Education, Science and Culture in Japan. Contract grant number: 07770607.