These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
50 related articles for article (PubMed ID: 32823072)
1. 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]
2. Analysis of the Phenotype Differences in Siblings with Alkaptonuria. Zatkova A; Olsson B; Ranganath LR; Imrich R Metabolites; 2022 Oct; 12(10):. PubMed ID: 36295892 [TBL] [Abstract][Full Text] [Related]
3. Expression of tyrosine pathway enzymes in mice demonstrates that homogentisate 1,2-dioxygenase deficiency in the liver is responsible for homogentisic acid-derived ochronotic pigmentation. Wilson PJM; Ranganath LR; Bou-Gharios G; Gallagher JA; Hughes JH JIMD Rep; 2021 Mar; 58(1):52-60. PubMed ID: 33728247 [TBL] [Abstract][Full Text] [Related]
4. Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel Mutations. Usher JL; Ascher DB; Pires DE; Milan AM; Blundell TL; Ranganath LR JIMD Rep; 2015; 24():3-11. PubMed ID: 25681086 [TBL] [Abstract][Full Text] [Related]
6. Breakpoints characterisation of the genomic deletions identified by MLPA in alkaptonuria patients. Soltysova A; Sekelska M; Zatkova A Eur J Hum Genet; 2023 Apr; 31(4):485-489. PubMed ID: 35110678 [TBL] [Abstract][Full Text] [Related]
7. 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]
8. Biochemical and molecular confirmation of alkaptonuria in a Sumatran orangutan (Pongo abelii). Fayette MA; Booth KTA; Lynnes TC; Luna C; Minich DJ; Wilson TE; Miller MJ Mol Genet Metab; 2023 Jul; 139(3):107628. PubMed ID: 37354891 [TBL] [Abstract][Full Text] [Related]
9. Redefining a new frontier in alkaptonuria therapy with AI-driven drug candidate design via Naveed M; Javed K; Aziz T; Zafar A; Fatima M; Ali I; Khan AA; Albekairi TH Z Naturforsch C J Biosci; 2024 Jul; ():. PubMed ID: 38996180 [TBL] [Abstract][Full Text] [Related]
10. A novel deep intronic variant strongly associates with Alkaptonuria. Lai CY; Tsai IJ; Chiu PC; Ascher DB; Chien YH; Huang YH; Lin YL; Hwu WL; Lee NC NPJ Genom Med; 2021 Oct; 6(1):89. PubMed ID: 34686677 [TBL] [Abstract][Full Text] [Related]
11. Alkaptonuria in an Elderly Presenting with Asynchronous Rupture of both Quadriceps Tendons and Chronic Kidney Failure: Case Report and Literature Review. Issa AMA; Alsager GA J Orthop Case Rep; 2023 Dec; 13(12):80-85. PubMed ID: 38162369 [TBL] [Abstract][Full Text] [Related]
12. Long-Term Outcomes of the Knee and Hip Arthroplasties in Patients with Alkaptonuria. Al-Ajlouni JM; Alisi MS; Yasin MS; Khanfar A; Hamdan M; Halaweh AA; Al Hawamdeh H; Elessi K; Alsbou MS Arthroplast Today; 2020 Dec; 6(4):689-693. PubMed ID: 32875021 [TBL] [Abstract][Full Text] [Related]
13. Elucidating the Role of O Bopp CE; Bernet NM; Meyer F; Khan R; Robinson SL; Kohler HE; Buller R; Hofstetter TB ACS Environ Au; 2024 Jul; 4(4):204-218. PubMed ID: 39035869 [TBL] [Abstract][Full Text] [Related]
15. Untargeted NMR Metabolomics Reveals Alternative Biomarkers and Pathways in Alkaptonuria. Grasso D; Geminiani M; Galderisi S; Iacomelli G; Peruzzi L; Marzocchi B; Santucci A; Bernini A Int J Mol Sci; 2022 Dec; 23(24):. PubMed ID: 36555443 [TBL] [Abstract][Full Text] [Related]
16. A molecular spectroscopy approach for the investigation of early phase ochronotic pigment development in Alkaptonuria. Bernini A; Petricci E; Atrei A; Baratto MC; Manetti F; Santucci A Sci Rep; 2021 Nov; 11(1):22562. PubMed ID: 34799606 [TBL] [Abstract][Full Text] [Related]
17. Transient pockets as mediators of gas molecules routes inside proteins: The case study of dioxygen pathway in homogentisate 1,2-dioxygenase and its implication in Alkaptonuria development. Bernini A; Galderisi S; Spiga O; Amarabom CO; Santucci A Comput Biol Chem; 2020 Oct; 88():107356. PubMed ID: 32823072 [TBL] [Abstract][Full Text] [Related]