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5. An update on molecular genetics of Alkaptonuria (AKU). Zatkova A J Inherit Metab Dis; 2011 Dec; 34(6):1127-36. PubMed ID: 21720873 [TBL] [Abstract][Full Text] [Related]
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7. 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]
8. 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]
9. Variant Analysis of Alkaptonuria Families with Significant Founder Effect in Jordan. Khalil R; Ali D; Mwafi N; Alsaraireh A; Obeidat L; Albsoul E; Al Sbou' I Biomed Res Int; 2021; 2021():1515641. PubMed ID: 34235214 [TBL] [Abstract][Full Text] [Related]
10. Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria. Vilboux T; Kayser M; Introne W; Suwannarat P; Bernardini I; Fischer R; O'Brien K; Kleta R; Huizing M; Gahl WA Hum Mutat; 2009 Dec; 30(12):1611-9. PubMed ID: 19862842 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. Clinical presentation of 13 children with alkaptonuria. Kujawa MJ; Świętoń D; Wierzba J; Grzywińska M; Budziło O; Limanówka M; Pierzynowska K; Gaffke L; Grabowski Ł; Cyske Z; Rintz E; Rąbalski Ł; Kosiński M; Węgrzyn G; Mański A; Anikiej-Wiczenbach P; Ranganath L; Piskunowicz M J Inherit Metab Dis; 2023 Sep; 46(5):916-930. PubMed ID: 37395296 [TBL] [Abstract][Full Text] [Related]
13. Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype-phenotype correlations in the largest cohort of patients with AKU. Ascher DB; Spiga O; Sekelska M; Pires DEV; Bernini A; Tiezzi M; Kralovicova J; Borovska I; Soltysova A; Olsson B; Galderisi S; Cicaloni V; Ranganath L; Santucci A; Zatkova A Eur J Hum Genet; 2019 Jun; 27(6):888-902. PubMed ID: 30737480 [TBL] [Abstract][Full Text] [Related]
14. Natural history of alkaptonuria revisited: analyses based on scoring systems. Ranganath LR; Cox TF J Inherit Metab Dis; 2011 Dec; 34(6):1141-51. PubMed ID: 21748407 [TBL] [Abstract][Full Text] [Related]
15. First report of HGD mutations in a Chinese with alkaptonuria. Yang YJ; Guo JH; Chen WJ; Zhao R; Tang JS; Meng XH; Zhao L; Tu M; He XY; Wu LQ; Zhu YM Gene; 2013 Apr; 518(2):467-9. PubMed ID: 23353776 [TBL] [Abstract][Full Text] [Related]
16. Conditional targeting in mice reveals that hepatic homogentisate 1,2-dioxygenase activity is essential in reducing circulating homogentisic acid and for effective therapy in the genetic disease alkaptonuria. Hughes JH; Liu K; Plagge A; Wilson PJM; Sutherland H; Norman BP; Hughes AT; Keenan CM; Milan AM; Sakai T; Ranganath LR; Gallagher JA; Bou-Gharios G Hum Mol Genet; 2019 Dec; 28(23):3928-3939. PubMed ID: 31600782 [TBL] [Abstract][Full Text] [Related]
17. Homogentisate 1,2-dioxygenase (HGD) gene variants in young Egyptian patients with alkaptonuria. Abdelkhalek ZS; Mahmoud IG; Omair H; Abdulhay M; Elmonem MA Sci Rep; 2023 Sep; 13(1):14374. PubMed ID: 37658095 [TBL] [Abstract][Full Text] [Related]
18. Mutation screening of the HGD gene identifies a novel alkaptonuria mutation with significant founder effect and high prevalence. Sakthivel S; Zatkova A; Nemethova M; Surovy M; Kadasi L; Saravanan MP Ann Hum Genet; 2014 May; 78(3):155-64. PubMed ID: 24575791 [TBL] [Abstract][Full Text] [Related]
19. 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]
20. Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database. Zatkova A; Sedlackova T; Radvansky J; Polakova H; Nemethova M; Aquaron R; Dursun I; Usher JL; Kadasi L JIMD Rep; 2012; 4():55-65. PubMed ID: 23430897 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]