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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

312 related articles for article (PubMed ID: 32158253)

  • 21. 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]  

  • 22. Recent advances in management of alkaptonuria (invited review; best practice article).
    Ranganath LR; Jarvis JC; Gallagher JA
    J Clin Pathol; 2013 May; 66(5):367-73. PubMed ID: 23486607
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Alkaptonuria.
    Mistry JB; Bukhari M; Taylor AM
    Rare Dis; 2013; 1():e27475. PubMed ID: 25003018
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Alkaptonuria in Russia.
    Soltysova A; Kuzin A; Samarkina E; Zatkova A
    Eur J Hum Genet; 2022 Feb; 30(2):237-242. PubMed ID: 34504318
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Homogentisic acid induces autophagy alterations leading to chondroptosis in human chondrocytes: Implications in Alkaptonuria.
    Galderisi S; Milella MS; Rossi M; Cicaloni V; Rossi R; Giustarini D; Spiga O; Tinti L; Salvini L; Tinti C; Braconi D; Millucci L; Lupetti P; Prischi F; Bernardini G; Santucci A
    Arch Biochem Biophys; 2022 Mar; 717():109137. PubMed ID: 35090868
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Alkaptonuria in Turkey: Clinical and molecular characteristics of 66 patients.
    Kisa PT; Gunduz M; Dorum S; Uzun OU; Cakar NE; Yildirim GK; Erdol S; Hismi BO; Tugsal HY; Ucar U; Gorukmez O; Gulten ZA; Kucukcongar A; Bulbul S; Sari I; Arslan N
    Eur J Med Genet; 2021 May; 64(5):104197. PubMed ID: 33746036
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Reversal of ochronotic pigmentation in alkaptonuria following nitisinone therapy: Analysis of data from the United Kingdom National Alkaptonuria Centre.
    Ranganath LR; Milan AM; Hughes AT; Khedr M; Davison AS; Wilson PJ; Dillon JP; West E; Gallagher JA
    JIMD Rep; 2020 Sep; 55(1):75-87. PubMed ID: 32904992
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Preventive use of nitisinone in alkaptonuria.
    Wolffenbuttel BHR; Heiner-Fokkema MR; van Spronsen FJ
    Orphanet J Rare Dis; 2021 Aug; 16(1):343. PubMed ID: 34344451
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Homogentisate 1,2 dioxygenase is expressed in human osteoarticular cells: implications in alkaptonuria.
    Laschi M; Tinti L; Braconi D; Millucci L; Ghezzi L; Amato L; Selvi E; Spreafico A; Bernardini G; Santucci A
    J Cell Physiol; 2012 Sep; 227(9):3254-7. PubMed ID: 22105303
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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]  

  • 31. Hepatobiliary circulation and dominant urinary excretion of homogentisic acid in a mouse model of alkaptonuria.
    Norman BP; Sutherland H; Wilson PJM; Rutland DA; Milan AM; Hughes AT; Davison AS; Khedr M; Jarvis JC; Gallagher JA; Bou-Gharios G; Ranganath LR
    J Inherit Metab Dis; 2024 Jul; 47(4):664-673. PubMed ID: 38487984
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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]  

  • 33. Ochronotic pigmentation is caused by homogentisic acid and is the key event in alkaptonuria leading to the destructive consequences of the disease-A review.
    Ranganath LR; Norman BP; Gallagher JA
    J Inherit Metab Dis; 2019 Sep; 42(5):776-792. PubMed ID: 31282009
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Alkaptonuria, ochronosis, and ochronotic arthropathy.
    Mannoni A; Selvi E; Lorenzini S; Giorgi M; Airó P; Cammelli D; Andreotti L; Marcolongo R; Porfirio B
    Semin Arthritis Rheum; 2004 Feb; 33(4):239-48. PubMed ID: 14978662
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Characterizing the alkaptonuria joint and spine phenotype and assessing the effect of homogentisic acid lowering therapy in a large cohort of 87 patients.
    Ranganath LR; Khedr M; Vinjamuri S; Gallagher JA
    J Inherit Metab Dis; 2021 May; 44(3):666-676. PubMed ID: 33452825
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Redox-proteomics of the effects of homogentisic acid in an in vitro human serum model of alkaptonuric ochronosis.
    Braconi D; Bianchini C; Bernardini G; Laschi M; Millucci L; Spreafico A; Santucci A
    J Inherit Metab Dis; 2011 Dec; 34(6):1163-76. PubMed ID: 21874298
    [TBL] [Abstract][Full Text] [Related]  

  • 37. A quantitative assessment of alkaptonuria: testing the reliability of two disease severity scoring systems.
    Cox TF; Ranganath L
    J Inherit Metab Dis; 2011 Dec; 34(6):1153-62. PubMed ID: 21744089
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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]  

  • 39.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

  • 40.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 16.