-
1
-
-
83455255674
-
Clinical and functional characterization of URAT1 variants
-
COI: 1:CAS:528:DC%2BC38XjvFahsQ%3D%3D, PID: 22194875
-
Tasic V, Hynes AM, Kitamura K et al (2011) Clinical and functional characterization of URAT1 variants. PLoS One 6(12):e28641
-
(2011)
PLoS One
, vol.6
, Issue.12
, pp. 28641
-
-
Tasic, V.1
Hynes, A.M.2
Kitamura, K.3
-
2
-
-
84861137621
-
Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2
-
COI: 1:CAS:528:DC%2BC38XnsFGnt7k%3D
-
Dinour D, Gray NK, Ganon L et al (2012) Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2. Nephrol Dial Transpl 27(3):1035–1041
-
(2012)
Nephrol Dial Transpl
, vol.27
, Issue.3
, pp. 1035-1041
-
-
Dinour, D.1
Gray, N.K.2
Ganon, L.3
-
3
-
-
79957907450
-
Recurrent EIARF and PRES with severe renal hypouricemia by compound heterozygous SLC2A9 mutation
-
PID: 21536615
-
Shima Y, Nozu K, Nozu Y et al (2011) Recurrent EIARF and PRES with severe renal hypouricemia by compound heterozygous SLC2A9 mutation. Pediatrics 127(6):e1621–e1625
-
(2011)
Pediatrics
, vol.127
, Issue.6
, pp. 1621-1625
-
-
Shima, Y.1
Nozu, K.2
Nozu, Y.3
-
4
-
-
55249096942
-
Plasma urate level is directly regulated by a voltage-driven urate efflux transporter URAT1 (SLC2A9) in humans
-
COI: 1:CAS:528:DC%2BD1cXhtFKhu7jM, PID: 18701466
-
Anzai N, Ichida K, Jutabha P et al (2008) Plasma urate level is directly regulated by a voltage-driven urate efflux transporter URAT1 (SLC2A9) in humans. J Biol Chem 283(40):26834–26838
-
(2008)
J Biol Chem
, vol.283
, Issue.40
, pp. 26834-26838
-
-
Anzai, N.1
Ichida, K.2
Jutabha, P.3
-
5
-
-
57049174486
-
Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia
-
COI: 1:CAS:528:DC%2BD1MXit1Ki, PID: 19026395
-
Matsuo H, Chiba T, Nagamori S et al (2008) Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia. Am J Hum Genet 83(6):744–751
-
(2008)
Am J Hum Genet
, vol.83
, Issue.6
, pp. 744-751
-
-
Matsuo, H.1
Chiba, T.2
Nagamori, S.3
-
6
-
-
75149114710
-
Homozygous SLC2A9 mutations cause severe renal hypouricemia
-
COI: 1:CAS:528:DC%2BC3cXhsFCltbg%3D, PID: 19926891
-
Dinour D, Gray NK, Campbell S et al (2010) Homozygous SLC2A9 mutations cause severe renal hypouricemia. J Am Soc Nephrol 21(1):64–72
-
(2010)
J Am Soc Nephrol
, vol.21
, Issue.1
, pp. 64-72
-
-
Dinour, D.1
Gray, N.K.2
Campbell, S.3
-
7
-
-
84868610772
-
Novel URAT1 mutations caused acute renal failure after exercise in two Chinese families with renal hypouricemia
-
COI: 1:CAS:528:DC%2BC38XhsFCgurrN, PID: 23043931
-
Li Z, Ding H, Chen C et al (2013) Novel URAT1 mutations caused acute renal failure after exercise in two Chinese families with renal hypouricemia. Gene 512(1):97–101
-
(2013)
Gene
, vol.512
, Issue.1
, pp. 97-101
-
-
Li, Z.1
Ding, H.2
Chen, C.3
-
8
-
-
33746962146
-
Hereditary renal hypouricemia
-
COI: 1:CAS:528:DC%2BD28XotlCjs7w%3D, PID: 16678460
-
Sperling O (2006) Hereditary renal hypouricemia. Mol Genet Metab 89(1–2):14–18
-
(2006)
Mol Genet Metab
, vol.89
, Issue.1-2
, pp. 14-18
-
-
Sperling, O.1
-
9
-
-
77953187009
-
Uric acid transport and disease
-
COI: 1:CAS:528:DC%2BC3cXnt1Kqtro%3D, PID: 20516647
-
So A, Thorens B (2010) Uric acid transport and disease. J Clin Invest 120(6):1791–1799
-
(2010)
J Clin Invest
, vol.120
, Issue.6
, pp. 1791-1799
-
-
So, A.1
Thorens, B.2
-
10
-
-
61549117861
-
Oxidative imbalance in idiopathic renal hypouricemia
-
PID: 18936980
-
Kaneko K, Taniguchi N, Tanabe Y et al (2009) Oxidative imbalance in idiopathic renal hypouricemia. Pediatr Nephrol 24(4):869–871
-
(2009)
Pediatr Nephrol
, vol.24
, Issue.4
, pp. 869-871
-
-
Kaneko, K.1
Taniguchi, N.2
Tanabe, Y.3
-
11
-
-
18944362512
-
Acute renal failure with severe loin pain and patchy renal ischaemia after anaerobic exercise (ALPE) (exercise-induced acute renal failure) in a father and child with URAT1 mutations beyond the W258X mutation
-
Ishikawa I, Nakagawa M, Hayama S et al (2005) Acute renal failure with severe loin pain and patchy renal ischaemia after anaerobic exercise (ALPE) (exercise-induced acute renal failure) in a father and child with URAT1 mutations beyond the W258X mutation. Nephrol Dial Transpl 20(5):1015
-
(2005)
Nephrol Dial Transpl
, vol.20
, Issue.5
, pp. 1015
-
-
Ishikawa, I.1
Nakagawa, M.2
Hayama, S.3
-
12
-
-
0035995327
-
Acute renal failure with severe loin pain and patchy renal ischemia after anaerobic exercise in patients with or without renal hypouricemia
-
PID: 12138255
-
Ishikawa I (2002) Acute renal failure with severe loin pain and patchy renal ischemia after anaerobic exercise in patients with or without renal hypouricemia. Nephron 91(4):559–570
-
(2002)
Nephron
, vol.91
, Issue.4
, pp. 559-570
-
-
Ishikawa, I.1
-
13
-
-
23344452996
-
Evaluation of exercise-induced acute renal failure in renal hypouricemia using Tc-99m DTPA renography
-
PID: 16097644
-
Nishida H, Kaida H, Ishibashi M et al (2005) Evaluation of exercise-induced acute renal failure in renal hypouricemia using Tc-99m DTPA renography. Ann Nucl Med 19(4):325–329
-
(2005)
Ann Nucl Med
, vol.19
, Issue.4
, pp. 325-329
-
-
Nishida, H.1
Kaida, H.2
Ishibashi, M.3
-
14
-
-
84886778272
-
Posterior reversible encephalopathy syndrome with exercise-induced acute kidney injury in renal hypouricemia type 1
-
PID: 23525542
-
Fujinaga S, Ito A, Nakagawa M et al (2013) Posterior reversible encephalopathy syndrome with exercise-induced acute kidney injury in renal hypouricemia type 1. Eur J Pediatr 172(11):1557–1560
-
(2013)
Eur J Pediatr
, vol.172
, Issue.11
, pp. 1557-1560
-
-
Fujinaga, S.1
Ito, A.2
Nakagawa, M.3
-
15
-
-
0001600954
-
A case of renal hypouricemia with exercise-induced acute renal failure and cerebral infarction
-
Ueda O, Oka T, Kyan H (1997) A case of renal hypouricemia with exercise-induced acute renal failure and cerebral infarction. J Jpn Pediatr Soc 101(5):1620–1625
-
(1997)
J Jpn Pediatr Soc
, vol.101
, Issue.5
, pp. 1620-1625
-
-
Ueda, O.1
Oka, T.2
Kyan, H.3
-
16
-
-
0033929293
-
Exercise-induced acute renal failure in a patient with renal hypouricemia
-
COI: 1:STN:280:DC%2BD3M%2Fktlyrsg%3D%3D, PID: 10955943
-
Watanabe T, Abe T, Oda Y (2000) Exercise-induced acute renal failure in a patient with renal hypouricemia. Pediatr Nephrol 14(8–9):851–852
-
(2000)
Pediatr Nephrol
, vol.14
, Issue.8-9
, pp. 851-852
-
-
Watanabe, T.1
Abe, T.2
Oda, Y.3
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