298 related articles for article (PubMed ID: 12939823)
1. [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]
2. [Ochronotic changes in alkaptonuria: a case report].
Kusz D
Chir Narzadow Ruchu Ortop Pol; 1999; 64(6):677-82. PubMed ID: 10765486
[TBL] [Abstract][Full Text] [Related]
3. The human gene for alkaptonuria (AKU) maps to chromosome 3q.
Janocha S; Wolz W; Srsen S; Srsnova K; Montagutelli X; Guénet JL; Grimm T; Kress W; Müller CR
Genomics; 1994 Jan; 19(1):5-8. PubMed ID: 8188241
[TBL] [Abstract][Full Text] [Related]
4. The molecular basis of alkaptonuria.
Fernández-Cañón JM; Granadino B; Beltrán-Valero de Bernabé D; Renedo M; Fernández-Ruiz E; Peñalva MA; Rodríguez de Córdoba S
Nat Genet; 1996 Sep; 14(1):19-24. PubMed ID: 8782815
[TBL] [Abstract][Full Text] [Related]
5. Molecular diagnosis of alkaptonuria mutation by analysis of homogentisate 1,2 dioxygenase mRNA from urine and blood.
Ramos SM; Hernández M; Roces A; Larruga JM; González P; González AM; Pinto FM; Cabrera VM
Am J Med Genet; 1998 Jun; 78(2):192-4. PubMed ID: 9674916
[TBL] [Abstract][Full Text] [Related]
6. [Ochronosis: a case report with multisystemic affectation, including pericardium].
Cobos Soler FJ; Molero Cabrilla R
An Med Interna; 2002 Nov; 19(11):583-5. PubMed ID: 12522896
[TBL] [Abstract][Full Text] [Related]
7. Picture of the month. Denouement and discussion: alkaptonuria.
Nitu M; Ancona K; Coleman C; Tunnessen WW
Arch Pediatr Adolesc Med; 2001 Sep; 155(9):1063-4. PubMed ID: 11529810
[No Abstract] [Full Text] [Related]
8. aku, a mutation of the mouse homologous to human alkaptonuria, maps to chromosome 16.
Montagutelli X; Lalouette A; Coudé M; Kamoun P; Forest M; Guénet JL
Genomics; 1994 Jan; 19(1):9-11. PubMed ID: 8188247
[TBL] [Abstract][Full Text] [Related]
9. Crystal structure of human homogentisate dioxygenase.
Titus GP; Mueller HA; Burgner J; Rodríguez De Córdoba S; Peñalva MA; Timm DE
Nat Struct Biol; 2000 Jul; 7(7):542-6. PubMed ID: 10876237
[TBL] [Abstract][Full Text] [Related]
10. Natural history of alkaptonuria.
Phornphutkul C; Introne WJ; Perry MB; Bernardini I; Murphey MD; Fitzpatrick DL; Anderson PD; Huizing M; Anikster Y; Gerber LH; Gahl WA
N Engl J Med; 2002 Dec; 347(26):2111-21. PubMed ID: 12501223
[TBL] [Abstract][Full Text] [Related]
11. Alkaptonuria and intramedullary calcification.
Raina S; Mahesh DM; Kaushal SS; Gupta D; Dhiman DS; Negi A; Sharma S
J Assoc Physicians India; 2008 Jul; 56():552-5. PubMed ID: 18846913
[TBL] [Abstract][Full Text] [Related]
12. Sequence analysis of the homogentisate 1,2 dioxygenase gene in a family affected by alkaptonuria.
Walter K; Gaa A; Schaefer HE
J Med Genet; 1999 Aug; 36(8):645-6. PubMed ID: 10465119
[No Abstract] [Full Text] [Related]
13. [Alkaptonuria (homogentisic aciduria)].
Takita H
Ryoikibetsu Shokogun Shirizu; 1998; (18 Pt 1):328-31. PubMed ID: 9590059
[No Abstract] [Full Text] [Related]
14. Inborn error of metabolism.
Konforti B
Nat Struct Biol; 2000 Jul; 7(7):535-6. PubMed ID: 10876234
[No Abstract] [Full Text] [Related]
15. [Diagnostic image (45). Ochronosis].
ter Borg EJ
Ned Tijdschr Geneeskd; 2001 Jul; 145(27):1295. PubMed ID: 11475020
[TBL] [Abstract][Full Text] [Related]
16. Mutational analysis of the HGO gene in Finnish alkaptonuria patients.
Beltrán-Valero de Bernabé D; Peterson P; Luopajärvi K; Matintalo P; Alho A; Konttinen Y; Krohn K; Rodríguez de Córdoba S; Ranki A
J Med Genet; 1999 Dec; 36(12):922-3. PubMed ID: 10594001
[TBL] [Abstract][Full Text] [Related]
17. Unrecognized ochronosis--a case report.
Murgić L; Grubisić F; Jajić Z
Acta Clin Croat; 2008 Jun; 47(2):105-9. PubMed ID: 18949907
[TBL] [Abstract][Full Text] [Related]
18. Exacerbation of the ochronosis of alkaptonuria due to renal insufficiency and improvement after renal transplantation.
Introne WJ; Phornphutkul C; Bernardini I; McLaughlin K; Fitzpatrick D; Gahl WA
Mol Genet Metab; 2002; 77(1-2):136-42. PubMed ID: 12359141
[TBL] [Abstract][Full Text] [Related]
19. Diagnosis of alkaptonuria in children.
Srsen S; Srsnová K
Padiatr Padol; 1979; 14(2):163-7. PubMed ID: 460920
[TBL] [Abstract][Full Text] [Related]
20. Molecular defects in alkaptonuria.
Gehrig A; Schmidt SR; Müller CR; Srsen S; Srsnova K; Kress W
Cytogenet Cell Genet; 1997; 76(1-2):14-6. PubMed ID: 9154114
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
