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27. R58fs mutation in the HGD gene in a family with alkaptonuria in the UAE. Abdulrazzaq YM; Ibrahim A; Al-Khayat AI; Nagelkerke N; Ali BR Ann Hum Genet; 2009 Jan; 73(1):125-30. PubMed ID: 18945288 [TBL] [Abstract][Full Text] [Related]
28. [Alkaptonuria: a rare metabolic disorder. A report of two cases in siblings]. Matuszewska E; Kaczmarski M; Wasilewska J; Daniluk U; Krasnow A; Mikołuć B Pol Merkur Lekarski; 2003 May; 14(83):444-6. PubMed ID: 12939823 [TBL] [Abstract][Full Text] [Related]
29. Are we ready to try to cure alkaptonuria? La Du BN Am J Hum Genet; 1998 Apr; 62(4):765-7. PubMed ID: 9529368 [No Abstract] [Full Text] [Related]
31. Novel mutations in the homogentisate 1,2 dioxygenase gene identified in Jordanian patients with alkaptonuria. Al-sbou M Rheumatol Int; 2012 Jun; 32(6):1741-6. PubMed ID: 21437689 [TBL] [Abstract][Full Text] [Related]
32. Alkaptonuria: from humans to moulds and back. Scazzocchio C Trends Genet; 1997 Apr; 13(4):125-7. PubMed ID: 9097720 [No Abstract] [Full Text] [Related]
33. Three-generational alkaptonuria in a non-consanguineous family. Oexle K; Engel K; Tinschert S; Haas D; Lee-Kirsch MA J Inherit Metab Dis; 2008 Dec; 31 Suppl 2():S425-30. PubMed ID: 19096913 [TBL] [Abstract][Full Text] [Related]
34. Two novel mutations in the homogentisate-1,2-dioxygenase gene identified in Chinese Han Child with Alkaptonuria. Li H; Zhang K; Xu Q; Ma L; Lv X; Sun R J Pediatr Endocrinol Metab; 2015 Mar; 28(3-4):453-6. PubMed ID: 25153563 [TBL] [Abstract][Full Text] [Related]
35. A novel mutation in the homogentisate 1,2 dioxygenase gene identified in Chinese Hani pediatric patients with Alkaptonuria. Tao L; Deng C; Ma M; Zhang Y; Duan J; Li Y; Fang L; Zhou Y; He X; Wang Y; Wang M; Li L Clin Chim Acta; 2022 Jul; 532():164-171. PubMed ID: 35550814 [TBL] [Abstract][Full Text] [Related]
36. Homogentisic acid oxidase activity in homozygous and heterozygous alkaptonuric mice. Coudé M; Montagutelli X; Guenet JL; Kamoun P Ann Biol Clin (Paris); 1994; 52(7-8):569-70. PubMed ID: 7840434 [No Abstract] [Full Text] [Related]
37. Founder effects of the homogentisate 1,2-dioxygenase (HGD) gene in a gypsy population and mutation spectrum in the gene among alkaptonuria patients from India. Danda S; Mohan S; Devaraj P; Dutta AK; Nampoothiri S; Yesodharan D; Phadke SR; Jalan AB; Thangaraj K; Verma IC; Danda D; Jebaraj I Clin Rheumatol; 2020 Sep; 39(9):2743-2749. PubMed ID: 32212000 [TBL] [Abstract][Full Text] [Related]
38. Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy. Nemethova M; Radvanszky J; Kadasi L; Ascher DB; Pires DE; Blundell TL; Porfirio B; Mannoni A; Santucci A; Milucci L; Sestini S; Biolcati G; Sorge F; Aurizi C; Aquaron R; Alsbou M; Lourenço CM; Ramadevi K; Ranganath LR; Gallagher JA; van Kan C; Hall AK; Olsson B; Sireau N; Ayoob H; Timmis OG; Sang KH; Genovese F; Imrich R; Rovensky J; Srinivasaraghavan R; Bharadwaj SK; Spiegel R; Zatkova A Eur J Hum Genet; 2016 Jan; 24(1):66-72. PubMed ID: 25804398 [TBL] [Abstract][Full Text] [Related]
39. Early-onset ocular ochronosis in a girl with alkaptonuria (AKU) and a novel mutation in homogentisate 1,2-dioxygenase (HGD). Gucev ZS; Slaveska N; Laban N; Danilovski D; Tasic V; Pop-Jordanova N; Zatkova A Prilozi; 2011; 32(1):305-11. PubMed ID: 21822197 [TBL] [Abstract][Full Text] [Related]
40. Alkaptonuria: such a long journey. Scriver CR Nat Genet; 1996 Sep; 14(1):5-6. PubMed ID: 8782808 [No Abstract] [Full Text] [Related] [Previous] [Next] [New Search]