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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1975 1
1977 3
1978 2
1979 1
1980 3
1982 1
1983 1
1984 1
1985 1
1987 2
1993 2
1994 1
1996 3
1998 1
2003 3
2004 4
2005 2
2006 3
2007 1
2008 5
2009 3
2010 4
2011 9
2012 5
2013 6
2014 7
2015 6
2016 7
2017 1
2018 6
2019 5
2020 6
2021 7
2022 8
2023 12
2024 2

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120 results

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Page 1
Hereditary renal hypouricemia.
Sperling O. Sperling O. Mol Genet Metab. 2006 Sep-Oct;89(1-2):14-8. doi: 10.1016/j.ymgme.2006.03.015. Epub 2006 May 5. Mol Genet Metab. 2006. PMID: 16678460 Review.
Hereditary renal hypouricemia (HRH) is an inborn error of renal membrane transport specific for uric acid, resulting in increased renal urate clearance associated with hypouricemia. ...Patients affected with SLC22A12 mutations exhibit attenuated response of u …
Hereditary renal hypouricemia (HRH) is an inborn error of renal membrane transport specific for uric acid, resulting in …
Dysuricemia.
Nakayama A, Kurajoh M, Toyoda Y, Takada T, Ichida K, Matsuo H. Nakayama A, et al. Biomedicines. 2023 Nov 28;11(12):3169. doi: 10.3390/biomedicines11123169. Biomedicines. 2023. PMID: 38137389 Free PMC article. Review.
URAT1, a molecular therapeutic target for gout/hyperuricemia, was initially derived from research into hereditary renal hypouricemia (RHUC). RHUC is often accompanied by complications such as exercise-induced acute kidney injury, which indicates the key physi …
URAT1, a molecular therapeutic target for gout/hyperuricemia, was initially derived from research into hereditary renal hyp …
Hipouricemia renal hereditaria tipo 1 y 2 en tres niños españoles. Revisión de casos pediátricos publicados.
Peris Vidal A, Marin Serra J, Lucas Sáez E, Ferrando Monleón S, Claverie-Martin F, Perdomo Ramírez A, Trujillo-Suarez J, Fons Moreno J. Peris Vidal A, et al. Nefrologia (Engl Ed). 2019 Jul-Aug;39(4):355-361. doi: 10.1016/j.nefro.2018.08.010. Epub 2019 Jan 28. Nefrologia (Engl Ed). 2019. PMID: 30704753 Free article. Review. English, Spanish.
Hereditary renal hypouricemia is a rare autosomal recessive genetic disorder that involves an isolated defect in uric acid reabsorption at the renal tubules. ...However, complications such us nephrolithiasis, hematuria, acute renal failure exercise-induced or …
Hereditary renal hypouricemia is a rare autosomal recessive genetic disorder that involves an isolated defect in uric a …
Altered Serum Uric Acid Levels in Kidney Disorders.
Kim GH, Jun JB. Kim GH, et al. Life (Basel). 2022 Nov 15;12(11):1891. doi: 10.3390/life12111891. Life (Basel). 2022. PMID: 36431026 Free PMC article. Review.
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is an important hereditary kidney disease, mainly caused by mutations of uromodulin (UMOD) or mucin-1 (MUC-1). Hyperuricemia and gout are the major clinical manifestations of ADTKD-UMOD and ADTKD-MUC1. Renal …
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is an important hereditary kidney disease, mainly caused by mutations of …
Clinical significance of hypouricemia in children and adolescents.
Köksoy AY, Görükmez Ö, Dorum S. Köksoy AY, et al. Pediatr Nephrol. 2023 Sep;38(9):3017-3025. doi: 10.1007/s00467-023-05948-4. Epub 2023 Mar 31. Pediatr Nephrol. 2023. PMID: 37000195
In the overexcretion group, the final diagnoses were nephropathic cystinosis (n = 6), distal renal tubular acidosis (n = 1), and hereditary renal hypouricemia (n = 1). The diagnostic lag was longer for patients with isolated hypouricemia compared to other pat …
In the overexcretion group, the final diagnoses were nephropathic cystinosis (n = 6), distal renal tubular acidosis (n = 1), and heredita …
A novel mutation in a patient with familial renal hypouricemia type 2.
Kaynar K, Güvercin B, Şahin M, Turan N, Açíkyürek F. Kaynar K, et al. Nefrologia (Engl Ed). 2022 May-Jun;42(3):347-350. doi: 10.1016/j.nefroe.2022.07.004. Nefrologia (Engl Ed). 2022. PMID: 36210123 Free article.
INTRODUCTION: Hypouricemia may be caused by disorders leading to decreased UA production, oxidation of UA to allantoin by drugs or increased renal tubular loss of filtered UA, renal hypouricemia (RHUC). RHUC may be resulted from familial or acquired disorders …
INTRODUCTION: Hypouricemia may be caused by disorders leading to decreased UA production, oxidation of UA to allantoin by drugs or increased …
A novel mutation in a patient with familial renal hypouricemia type 2.
Kaynar K, Güvercin B, Şahin M, Turan N, Açíkyürek F. Kaynar K, et al. Nefrologia (Engl Ed). 2021 Aug 16:S0211-6995(21)00154-5. doi: 10.1016/j.nefro.2021.07.006. Online ahead of print. Nefrologia (Engl Ed). 2021. PMID: 34412930 Free article. English, Spanish.
INTRODUCTION: Hypouricemia may be caused by disorders leading to decreased UA production, oxidation of UA to allantoin by drugs or increased renal tubular loss of filtered UA, renal hypouricemia (RHUC). RHUC may be resulted from familial or acquired disorders …
INTRODUCTION: Hypouricemia may be caused by disorders leading to decreased UA production, oxidation of UA to allantoin by drugs or increased …
Uric acid nephrolithiasis.
Halabe A, Sperling O. Halabe A, et al. Miner Electrolyte Metab. 1994;20(6):424-31. Miner Electrolyte Metab. 1994. PMID: 7783706 Review.
Hyperuricosuria is the major risk factor, the most common cause being increased purine intake in the diet. Acquired and hereditary diseases accompanied by hyperuricosuria and stone disease include: gout, in strong correlation with the amount of uric acid excreted, myelo- a …
Hyperuricosuria is the major risk factor, the most common cause being increased purine intake in the diet. Acquired and hereditary di …
120 results