Alkaptonuric patient presenting with “black” disc: a case report
Öz
Anahtar Kelimeler
Kaynakça
- Garrod AE. The incidence of alkaptonuria: a study in chemical individuality. Lancet 1902;2:1616-20.
- Fernández-Cañón JM, Granadino B, Beltrán-Valero de Bernabé D, Renedo M, Fernández-Ruiz E, Peñalva MA, et al. The molecular basis of alkaptonuria. Nat Genet 1996;14: 19Milch RA. Studies of alkaptonuria: inheritance of 47 cases in eight highly inter-related Dominican kindreds. Am J Hum Genet 1960;12:76-85.
- Srsen S. Analysis of the causes of the relatively frequent incidence of alkaptonuria in Slovakia. [Article in Slovak] Cas Lek Cesk 1983;122:1585-7.
- Goicoechea De Jorge E, Lorda I, Gallardo ME, Pérez B, Peréz De Ferrán C, Mendoza H, et al. Alkaptonuria in the Dominican Republic: identification of the founder AKU mutation and further evidence of mutation hot spots in the HGO gene. J Med Genet 2002;39:E40.
- Zatkova A, de Bernabe DB, Polakova H, Zvarik M, Ferakova E, Bosak V, et al. High frequency of alkaptonuria in Slovakia: evidence for the appearance of multiple mutations in HGO involving different mutational hot spots. Am J Hum Genet 2000;67:1333-9.
- Vilboux T, Kayser M, Introne W, Suwannarat P, Bernardini I, Fischer R, et al. Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria. Hum Mutat 2009;30:1611
- Phornphutkul C, Introne WJ, Perry MB, Bernardini I, Murphey MD, Fitzpatrick DL, et al. Natural history of alkaptonuria. N Engl J Med 2002;347:2111-21.
- La Du BN. Alkaptonuria. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular basis of inherited disease. 8th ed. New York: McGraw-Hill; 2001. p. 2109Goldsmith L. Disorders of metabolism. In: Fitzpatrick T, Arthur E, Wolff K, Irwin F, Frank A, editors. Dermatology in General Medicine, 3rd ed. New York: McGraw-Hill Book Co; 1987. p. 1642-6.
Ayrıntılar
Birincil Dil
İngilizce
Konular
Sağlık Kurumları Yönetimi
Bölüm
Araştırma Makalesi
Yazarlar
Ramazan Kahveci
Bu kişi benim
Mehmet Fikret Ergungor
Bu kişi benim
Ahmet Gunaydin
Bu kişi benim
Atiye Temiz
Bu kişi benim
Yayımlanma Tarihi
26 Nisan 2013
Gönderilme Tarihi
7 Mart 2014
Kabul Tarihi
-
Yayımlandığı Sayı
Yıl 2013 Cilt: 47 Sayı: 2