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

Year Number of Results
1976 1
1986 1
1988 2
1989 1
1990 1
1992 1
1995 2
1998 1
1999 4
2000 3
2001 1
2002 2
2003 1
2004 6
2005 3
2006 2
2007 1
2008 2
2009 5
2010 4
2011 4
2012 3
2013 4
2014 5
2015 4
2016 6
2017 6
2018 6
2019 4
2020 8
2021 2
2022 4
2023 4
2024 3

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91 results

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Page 1
Fanconi Syndrome.
Foreman JW. Foreman JW. Pediatr Clin North Am. 2019 Feb;66(1):159-167. doi: 10.1016/j.pcl.2018.09.002. Pediatr Clin North Am. 2019. PMID: 30454741 Review.
Lowe syndrome.
Loi M. Loi M. Orphanet J Rare Dis. 2006 May 18;1:16. doi: 10.1186/1750-1172-1-16. Orphanet J Rare Dis. 2006. PMID: 16722554 Free PMC article. Review.
Lowe syndrome (the oculocerebrorenal syndrome of Lowe, OCRL) is a multisystem disorder characterised by anomalies affecting the eye, the nervous system and the kidney. ...
Lowe syndrome (the oculocerebrorenal syndrome of Lowe, OCRL) is a multisystem disorder characterised by anomalies affecting th …
Oculocerebrorenal syndrome of Lowe: Survey of ophthalmic presentations and management.
Ma X, Ning K, Jabbehdari S, Prosseda PP, Hu Y, Shue A, Lambert SR, Sun Y. Ma X, et al. Eur J Ophthalmol. 2020 Sep;30(5):966-973. doi: 10.1177/1120672120920544. Epub 2020 Apr 27. Eur J Ophthalmol. 2020. PMID: 32340490 Free PMC article.
BACKGROUND: Lowe syndrome is a rare X-linked disease that is characterized by renal dysfunction, developmental delays, congenital cataracts and glaucoma. Mutations in the oculocerebral renal syndrome of Lowe (OCRL) gene are found in Lowe syndrome patie …
BACKGROUND: Lowe syndrome is a rare X-linked disease that is characterized by renal dysfunction, developmental delays, congeni …
The oculocerebrorenal syndrome of Lowe: an update.
Bökenkamp A, Ludwig M. Bökenkamp A, et al. Pediatr Nephrol. 2016 Dec;31(12):2201-2212. doi: 10.1007/s00467-016-3343-3. Epub 2016 Mar 24. Pediatr Nephrol. 2016. PMID: 27011217 Free PMC article. Review.
Recent data indicate that there is a phenotypic continuum between Dent-2 disease and Lowe syndrome, suggesting that there are individual differences in the ability to compensate for the loss of enzyme function. ...In this review, we provide an update on clinical and …
Recent data indicate that there is a phenotypic continuum between Dent-2 disease and Lowe syndrome, suggesting that there are …
Genetic Testing in Pediatric Kidney Disease.
Arora V, Anand K, Chander Verma I. Arora V, et al. Indian J Pediatr. 2020 Sep;87(9):706-715. doi: 10.1007/s12098-020-03198-y. Epub 2020 Feb 13. Indian J Pediatr. 2020. PMID: 32056192 Review.
It covers SRNS, congenital anomalies of the kidney, cystic kidney disease, tubulopathies, nephronophthisis, Fabry disease, Alport and Lowe syndrome. Atypical hemolytic uremic syndrome, renal tubular acidosis and nephrolithiasis are also covered briefly. ...
It covers SRNS, congenital anomalies of the kidney, cystic kidney disease, tubulopathies, nephronophthisis, Fabry disease, Alport and Low …
Dent's disease.
Devuyst O, Thakker RV. Devuyst O, et al. Orphanet J Rare Dis. 2010 Oct 14;5:28. doi: 10.1186/1750-1172-5-28. Orphanet J Rare Dis. 2010. PMID: 20946626 Free PMC article. Review.
OCRL1 encodes a phosphatidylinositol bisphosphate (PIP2) 5-phosphatase and mutations are also associated with Lowe Syndrome. The phenotype of Dent's disease is explained by the predominant expression of ClC-5 in the proximal tubule segments of the kidney. ...
OCRL1 encodes a phosphatidylinositol bisphosphate (PIP2) 5-phosphatase and mutations are also associated with Lowe Syndrome. T …
Corneal Keloid in Lowe Syndrome.
Martin GC, Putterman M, Dureau P. Martin GC, et al. Ophthalmology. 2022 Jun;129(6):625. doi: 10.1016/j.ophtha.2021.12.006. Ophthalmology. 2022. PMID: 35598901 No abstract available.
Approach to renal tubular disorders.
Bagga A, Bajpai A, Menon S. Bagga A, et al. Indian J Pediatr. 2005 Sep;72(9):771-6. doi: 10.1007/BF02734150. Indian J Pediatr. 2005. PMID: 16186680 Review.
Most conditions are primary and monogenic but occasionally are secondary to other disorders (focal segmental glomerulosclerosis, cystinosis, Lowe syndrome). Tubular dysfunction should be considered in all children with failure to thrive, polyuria, refractory rickets …
Most conditions are primary and monogenic but occasionally are secondary to other disorders (focal segmental glomerulosclerosis, cystinosis, …
Lowe syndrome - Old and new evidence of secondary mitochondrial dysfunction.
Dumic KK, Anticevic D, Petrinovic-Doresic J, Zigman T, Zarković K, Rokic F, Vugrek O. Dumic KK, et al. Eur J Med Genet. 2020 Oct;63(10):104022. doi: 10.1016/j.ejmg.2020.104022. Epub 2020 Jul 23. Eur J Med Genet. 2020. PMID: 32712215
Consequently, differential diagnosis in infant period in these patients can be broad including other rare metabolic and neurologic disorders. Herein we present a 4.5 year old boy with Lowe syndrome caused by mutation of OCRL gene, NM_000276.4:c.643C > T; p....Thi …
Consequently, differential diagnosis in infant period in these patients can be broad including other rare metabolic and neurologic disorders …
91 results