-
1
-
-
50249205715
-
The Croonian lectures on inborn errors of metabolism. Lecture II. Alkaptonuria
-
COI: 1:CAS:528:DyaD28XovVU%3D
-
Garrod AE. The Croonian lectures on inborn errors of metabolism. Lecture II. Alkaptonuria. Lancet. 1908;2:73–9.
-
(1908)
Lancet
, vol.2
, pp. 73-79
-
-
Garrod, A.E.1
-
2
-
-
84920887875
-
-
Michaely WJ, Kratz GW. Certain 2-(2-substituted benzoyl)-1,3-cyclohexanediones. 1986; European Patent Application 0135191
-
Michaely WJ, Kratz GW. Certain 2-(2-substituted benzoyl)-1,3-cyclohexanediones. 1986; European Patent Application 0135191.
-
-
-
-
3
-
-
66349096552
-
Herbicidal 4-hydroxyphenylpyruvate dioxygenase inhibitors – a review of the triketone chemistry story from a Syngenta perspective
-
PID: 19349184, COI: 1:CAS:528:DC%2BD1MXntVGjtb4%3D
-
Beaudegnies R, Edmunds AJF, Frazer TEM, et al. Herbicidal 4-hydroxyphenylpyruvate dioxygenase inhibitors – a review of the triketone chemistry story from a Syngenta perspective. Bioorg Med Chem. 2009;17:4134–52.
-
(2009)
Bioorg Med Chem
, vol.17
, pp. 4134-4152
-
-
Beaudegnies, R.1
Edmunds, A.J.F.2
Frazer, T.E.M.3
-
4
-
-
0030459545
-
Tissue distribution of 2-(2-nitro-4-trifluoromethyl benzoyl)-cyclohexane-1,3-dione (NTBC): effect on enzymes involved in tyrosine catabolism and relevance to ocular toxicity in the rat
-
PID: 8975769, COI: 1:CAS:528:DyaK2sXis1Kltw%3D%3D
-
Lock EA, Gaskin P, Ellis MK, et al. Tissue distribution of 2-(2-nitro-4-trifluoromethyl benzoyl)-cyclohexane-1,3-dione (NTBC): effect on enzymes involved in tyrosine catabolism and relevance to ocular toxicity in the rat. Toxicol Appl Pharmacol. 1996;141:439–47.
-
(1996)
Toxicol Appl Pharmacol
, vol.141
, pp. 439-447
-
-
Lock, E.A.1
Gaskin, P.2
Ellis, M.K.3
-
5
-
-
33746380246
-
Tyrosinemia produced by 2-(2-nitro-4-trifluoromethyl benzoyl)-cyclohexane-1,3-dione (NTBC) in experimental animals and its relationship to corneal injury
-
PID: 16580702, COI: 1:CAS:528:DC%2BD28Xns1Glu7g%3D
-
Lock EA, Gaskin P, Ellis MK, et al. Tyrosinemia produced by 2-(2-nitro-4-trifluoromethyl benzoyl)-cyclohexane-1,3-dione (NTBC) in experimental animals and its relationship to corneal injury. Toxicol Appl Pharmacol. 2006;215:9–16.
-
(2006)
Toxicol Appl Pharmacol
, vol.215
, pp. 9-16
-
-
Lock, E.A.1
Gaskin, P.2
Ellis, M.K.3
-
6
-
-
0011331182
-
The corneal effects of 2-(2-nitro-4-trifluoromethylbenzoyl)-cyclohexane-1,3-dione (NTBC) in the rat
-
Weisse I, Hockwin O, Green K, Tripathi RC, (eds), Plenum Press, New York and London:
-
Robinson M. The corneal effects of 2-(2-nitro-4-trifluoromethylbenzoyl)-cyclohexane-1,3-dione (NTBC) in the rat. In: Weisse I, Hockwin O, Green K, Tripathi RC, editors. Ocular toxicology. New York and London: Plenum Press; 1995. p. 327–34.
-
(1995)
Ocular toxicology
, pp. 327-334
-
-
Robinson, M.1
-
7
-
-
0034599807
-
Tissue distribution of 2-(2-nitro-4-trifluoromethyl benzoyl)-cyclohexane-1,3-dione (NTBC) and its effect on enzymes involved in tyrosine catabolism in the mouse
-
PID: 10781886, COI: 1:CAS:528:DC%2BD3cXisFGns7c%3D
-
Lock EA, Gaskin P, Ellis MK, et al. Tissue distribution of 2-(2-nitro-4-trifluoromethyl benzoyl)-cyclohexane-1,3-dione (NTBC) and its effect on enzymes involved in tyrosine catabolism in the mouse. Toxicology. 2000;144:179–87.
-
(2000)
Toxicology
, vol.144
, pp. 179-187
-
-
Lock, E.A.1
Gaskin, P.2
Ellis, M.K.3
-
8
-
-
0019972703
-
Inhibition of phenyl hydroxylase, a pterin-requiring monooxygenase by oudenone and its derivatives
-
PID: 7096201, COI: 1:CAS:528:DyaL38XktVaksL0%3D
-
Koizumi S, Nagatsu T, Iinuma H, et al. Inhibition of phenyl hydroxylase, a pterin-requiring monooxygenase by oudenone and its derivatives. J Antibiot. 1982;35:458–62.
-
(1982)
J Antibiot
, vol.35
, pp. 458-462
-
-
Koizumi, S.1
Nagatsu, T.2
Iinuma, H.3
-
9
-
-
0002777723
-
The novel mechanism of action of the herbicidal triketones
-
Prisbylla MP, Onisko BC, Shribbs JM, et al. The novel mechanism of action of the herbicidal triketones. Weeds. 1993;3:731–8.
-
(1993)
Weeds
, vol.3
, pp. 731-738
-
-
Prisbylla, M.P.1
Onisko, B.C.2
Shribbs, J.M.3
-
10
-
-
0023085436
-
Hydroxyphenylpyruvate dioxygenase from human liver
-
PID: 3037254, COI: 1:CAS:528:DyaL2sXlslWitb4%3D
-
Lindstedt S, Odelhog B. 4-Hydroxyphenylpyruvate dioxygenase from human liver. Methods Enzymol. 1987;142:139–42.
-
(1987)
Methods Enzymol
, vol.142
, pp. 139-142
-
-
Lindstedt, S.1
Odelhog, B.2
-
11
-
-
9744253076
-
-
Moran GR. 4-Hydroxyphenylpyruvate dioxygenase. 2005;433:117-28
-
Moran GR. 4-Hydroxyphenylpyruvate dioxygenase. 2005;433:117-28.
-
-
-
-
12
-
-
0029070081
-
Inhibition of 4-hydroxyphenylpyruvate dioxygenase by 2-(2-nitro-4-trifluoromethylbenzoyl)cyclohexane-1,3-dione and 2-(2-chloro-4-methanesulphonylbenzoyl)-cyclohexane-1,3-dione
-
PID: 7597701, COI: 1:CAS:528:DyaK2MXms1WqtLw%3D
-
Ellis MK, Whitfield AC, Gowan LA, et al. Inhibition of 4-hydroxyphenylpyruvate dioxygenase by 2-(2-nitro-4-trifluoromethylbenzoyl)cyclohexane-1,3-dione and 2-(2-chloro-4-methanesulphonylbenzoyl)-cyclohexane-1,3-dione. Toxicol Appl Pharmacol. 1995;133:12–9.
-
(1995)
Toxicol Appl Pharmacol
, vol.133
, pp. 12-19
-
-
Ellis, M.K.1
Whitfield, A.C.2
Gowan, L.A.3
-
13
-
-
0031836797
-
The effect of a low-protein diet and dietary supplementation of threonine on tyrosine and 2-(2-nitro-4-trifluoromethylbenzoyl)-cyclohexane-1,3-dione-induced corneal lesions, the extent of tyrosinaemia, and the activity of enzymes involved in tyrosine catabolism in the rat
-
PID: 9630461, COI: 1:CAS:528:DyaK1cXjs12nu78%3D
-
Lock EA, Gaskin P, Ellis MK, et al. The effect of a low-protein diet and dietary supplementation of threonine on tyrosine and 2-(2-nitro-4-trifluoromethylbenzoyl)-cyclohexane-1,3-dione-induced corneal lesions, the extent of tyrosinaemia, and the activity of enzymes involved in tyrosine catabolism in the rat. Toxicol Appl Pharmacol. 1998;150:125–32.
-
(1998)
Toxicol Appl Pharmacol
, vol.150
, pp. 125-132
-
-
Lock, E.A.1
Gaskin, P.2
Ellis, M.K.3
-
14
-
-
0015702179
-
Excess dietary tyrosine and corneal lesions
-
PID: 4752365, COI: 1:CAS:528:DyaE2cXks1Ogtw%3D%3D
-
Rich LF, Beard ME, Burns RP. Excess dietary tyrosine and corneal lesions. Exp Eye Res. 1973;17:87–97.
-
(1973)
Exp Eye Res
, vol.17
, pp. 87-97
-
-
Rich, L.F.1
Beard, M.E.2
Burns, R.P.3
-
15
-
-
0000268383
-
Tyrosinaemia and related disorders
-
Scriver CR, Beaudet AL, Sly WS, Valle D, (eds), McGraw-Hill, New York:
-
Goldsmith LA, Laberge C. Tyrosinaemia and related disorders. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic basis of inherited disease. New York: McGraw-Hill; 1989. p. 547–62.
-
(1989)
The metabolic basis of inherited disease
, pp. 547-562
-
-
Goldsmith, L.A.1
Laberge, C.2
-
16
-
-
0025180243
-
Genetic epidemiology of hereditary tyrosinaemia in Quebec and Saguenay-Lac-St- Jean
-
DeBraekeller M, Larochelle J. Genetic epidemiology of hereditary tyrosinaemia in Quebec and Saguenay-Lac-St- Jean. Am J Hum Genet. 1990;47:302–7.
-
(1990)
Am J Hum Genet
, vol.47
, pp. 302-307
-
-
DeBraekeller, M.1
Larochelle, J.2
-
17
-
-
0026675589
-
Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase
-
PID: 1383656, COI: 1:STN:280:DyaK3s%2FitlWlsw%3D%3D
-
Lindstedt S, Holme E, Lock EA, et al. Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase. Lancet. 1992;340:813–7.
-
(1992)
Lancet
, vol.340
, pp. 813-817
-
-
Lindstedt, S.1
Holme, E.2
Lock, E.A.3
-
18
-
-
84866148040
-
Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Quebec
-
PID: 22885033, COI: 1:CAS:528:DC%2BC38XhtF2itbbE, A recent review on the efficacy of nitisinone for the treatment of HT-1
-
Larochelle J, Alvarez F, Bussieres JF, et al. Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Quebec. Mol Genet Metab. 2012;107:49–54. A recent review on the efficacy of nitisinone for the treatment of HT-1.
-
(2012)
Mol Genet Metab
, vol.107
, pp. 49-54
-
-
Larochelle, J.1
Alvarez, F.2
Bussieres, J.F.3
-
20
-
-
0000766960
-
-
Wolkow, Baumann. Z Physiol Chem. 1891;XV:228.
-
(1891)
Z Physiol Chem
, vol.15
, pp. 228
-
-
-
21
-
-
0000465301
-
The nature of the defect in tyrosine metabolism in alcaptonuria
-
La Du BN, Zannoni VG, Laster L, et al. The nature of the defect in tyrosine metabolism in alcaptonuria. J Biol Chem. 1958;230:251–60.
-
(1958)
J Biol Chem
, vol.230
, pp. 251-260
-
-
La Du, B.N.1
Zannoni, V.G.2
Laster, L.3
-
22
-
-
0027366933
-
Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2
-
PID: 8252048, COI: 1:CAS:528:DyaK3sXmsValsb8%3D
-
Pollak MR, Chou YH, Cerda JJ, et al. Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2. Nat Genet. 1993;5:201–4.
-
(1993)
Nat Genet
, vol.5
, pp. 201-204
-
-
Pollak, M.R.1
Chou, Y.H.2
Cerda, J.J.3
-
23
-
-
0000345880
-
Biochemical, pathologic and clinical aspects of alcaptonuria, ochronosis and ochronotic arthropathy: review of world literature (1584–1962)
-
O’Brien WM, La Du BN, Bunim JJ. Biochemical, pathologic and clinical aspects of alcaptonuria, ochronosis and ochronotic arthropathy: review of world literature (1584–1962). Am J Med. 1963;34:813–38.
-
(1963)
Am J Med
, vol.34
, pp. 813-838
-
-
O’Brien, W.M.1
La Du, B.N.2
Bunim, J.J.3
-
24
-
-
0036396614
-
Exacerbation of the ochronosis of Alkaptonuria due to renal insufficiency and improvement after renal transplantation
-
PID: 12359141, COI: 1:CAS:528:DC%2BD38XntlSisL0%3D
-
Introne WJ, Phornphutkul C, Bernardini I, et al. Exacerbation of the ochronosis of Alkaptonuria due to renal insufficiency and improvement after renal transplantation. Mol Genet Metab. 2002;77:136–42.
-
(2002)
Mol Genet Metab
, vol.77
, pp. 136-142
-
-
Introne, W.J.1
Phornphutkul, C.2
Bernardini, I.3
-
25
-
-
0014682867
-
Oxidation of homogentisic acid to ochronotic pigment in connective tissue
-
PID: 4976426, COI: 1:CAS:528:DyaF1MXosFCqsA%3D%3D
-
Zannoni VG, Lomtevas N, Goldfiner S. Oxidation of homogentisic acid to ochronotic pigment in connective tissue. Biochim Biophys Acta. 1969;177:94.
-
(1969)
Biochim Biophys Acta
, vol.177
, pp. 94
-
-
Zannoni, V.G.1
Lomtevas, N.2
Goldfiner, S.3
-
26
-
-
54949145369
-
Alkaptonuria – a review of surgical and autopsy pathology
-
PID: 18336562, COI: 1:STN:280:DC%2BD1cjhsFChtg%3D%3D
-
Helliwell TR, Gallagher JA, Ranganath LR. Alkaptonuria – a review of surgical and autopsy pathology. Histopathology. 2008;53:503–12.
-
(2008)
Histopathology
, vol.53
, pp. 503-512
-
-
Helliwell, T.R.1
Gallagher, J.A.2
Ranganath, L.R.3
-
27
-
-
0033910584
-
Increased urolithiasis in patients with alkaptonuria in childhood
-
PID: 10945668, COI: 1:STN:280:DC%2BD3M7ivVSksw%3D%3D
-
Zibolen M, Srsnova K, Srsen S. Increased urolithiasis in patients with alkaptonuria in childhood. Clin Genet. 2000;58:79–80.
-
(2000)
Clin Genet
, vol.58
, pp. 79-80
-
-
Zibolen, M.1
Srsnova, K.2
Srsen, S.3
-
28
-
-
82955203212
-
Natural history of Alkaptonuria revisited: analyses based on scoring systems
-
PID: 21748407, A recent review describing the natural history of AKU
-
Ranganath LR, Cox TF. Natural history of Alkaptonuria revisited: analyses based on scoring systems. J Inherit Metab Dis. 2011;34:1141–51. A recent review describing the natural history of AKU.
-
(2011)
J Inherit Metab Dis
, vol.34
, pp. 1141-1151
-
-
Ranganath, L.R.1
Cox, T.F.2
-
29
-
-
0015194595
-
Urolithiasis and prostatolithiasis in alcaptonuria with ochronosis
-
PID: 5154571, COI: 1:STN:280:DyaE3s%2FisFWquw%3D%3D
-
Krizek V. Urolithiasis and prostatolithiasis in alcaptonuria with ochronosis. Int Urol Nephrol. 1971;3:245–50.
-
(1971)
Int Urol Nephrol
, vol.3
, pp. 245-250
-
-
Krizek, V.1
-
30
-
-
0042028303
-
Spontaneous tendon ruptures in Alkaptonuria
-
PID: 12931812, COI: 1:STN:280:DC%2BD3szpsVGitA%3D%3D
-
Manoj Kumar RV, Rajasekaran S. Spontaneous tendon ruptures in Alkaptonuria. J Bone Joint Surg Br. 2003;85:883–6.
-
(2003)
J Bone Joint Surg Br
, vol.85
, pp. 883-886
-
-
Manoj Kumar, R.V.1
Rajasekaran, S.2
-
31
-
-
27744455239
-
Alkaptonuric ochronosis with aortic valve and joint replacements and femoral fracture: a case report and literature review
-
PID: 15931360
-
Fisher AA, Davis MW. Alkaptonuric ochronosis with aortic valve and joint replacements and femoral fracture: a case report and literature review. Clin Med Res. 2004;2:209–15.
-
(2004)
Clin Med Res
, vol.2
, pp. 209-215
-
-
Fisher, A.A.1
Davis, M.W.2
-
32
-
-
38149047660
-
Thoracic myelopathy with Alkaptonuria
-
PID: 18197093
-
Akeda K, Kasai Y, Kawakita E, et al. Thoracic myelopathy with Alkaptonuria. Spine. 2008;33:E62–5.
-
(2008)
Spine
, vol.33
, pp. E62-E65
-
-
Akeda, K.1
Kasai, Y.2
Kawakita, E.3
-
33
-
-
82455210470
-
The role of calcified cartilage and subchondral bone in the initiation and progression of ochronotic arthropathy in alkaptonuria
-
PID: 22127706, COI: 1:STN:280:DC%2BC38%2Fjs1ensw%3D%3D, A recent review describing the process of AKU damage to cartilage
-
Taylor AM, Boyde A, Wilson PJ, et al. The role of calcified cartilage and subchondral bone in the initiation and progression of ochronotic arthropathy in alkaptonuria. Arthritis Rheum. 2011;63:3887–96. A recent review describing the process of AKU damage to cartilage.
-
(2011)
Arthritis Rheum
, vol.63
, pp. 3887-3896
-
-
Taylor, A.M.1
Boyde, A.2
Wilson, P.J.3
-
34
-
-
0024392942
-
Effects of ascorbic acid in Alkaptonuria: alterations in benzoquinone acetic acid and an ontogenic effect in infancy
-
PID: 2771520, COI: 1:CAS:528:DyaL1MXlsVKlsr0%3D
-
Wolff JA, Barshop B, Nyhan WL, et al. Effects of ascorbic acid in Alkaptonuria: alterations in benzoquinone acetic acid and an ontogenic effect in infancy. Pediatr Res. 1989;26:140–4.
-
(1989)
Pediatr Res
, vol.26
, pp. 140-144
-
-
Wolff, J.A.1
Barshop, B.2
Nyhan, W.L.3
-
35
-
-
84876765760
-
Recent advances in management of alkaptonuria (invited review; best practice article) [Review]
-
PID: 23486607, COI: 1:CAS:528:DC%2BC3sXpt1Citrg%3D, A recent review detailing current best practise for the clinical management of alkaptonuria
-
Ranganath LR, Jarvis JC, Gallagher JA. Recent advances in management of alkaptonuria (invited review; best practice article) [Review]. J Clin Pathol. 2013;66:367–73. A recent review detailing current best practise for the clinical management of alkaptonuria.
-
(2013)
J Clin Pathol
, vol.66
, pp. 367-373
-
-
Ranganath, L.R.1
Jarvis, J.C.2
Gallagher, J.A.3
-
36
-
-
84859006916
-
A patient’s journey: living with Alkaptonuria
-
Laxon S, Ranganath L, Timmis O. A patient’s journey: living with Alkaptonuria. Br Med J. 2011;343:d5155.
-
(2011)
Br Med J
, vol.343
, pp. d5155
-
-
Laxon, S.1
Ranganath, L.2
Timmis, O.3
-
37
-
-
79960845905
-
A 3-year randomized therapeutic trial of nitisinone in Alkaptonuria
-
PID: 21620748, COI: 1:CAS:528:DC%2BC3MXpsFKjs74%3D
-
Introne WJ, Perry MB, Troendle J, et al. A 3-year randomized therapeutic trial of nitisinone in Alkaptonuria. Mol Genet Metab. 2011;103:307–14.
-
(2011)
Mol Genet Metab
, vol.103
, pp. 307-314
-
-
Introne, W.J.1
Perry, M.B.2
Troendle, J.3
-
38
-
-
84940210431
-
Reversible keratopathy due to hypertyrosinaemia following intermittent low-dose nitisinone in alkaptonuria: a case report
-
Stewart RM, Briggs MC, Jarvis JC, et al. Reversible keratopathy due to hypertyrosinaemia following intermittent low-dose nitisinone in alkaptonuria: a case report. JIMD Rep. 2014.
-
(2014)
JIMD Rep
-
-
Stewart, R.M.1
Briggs, M.C.2
Jarvis, J.C.3
|