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

Year Number of Results
1967 1
1968 1
1971 1
1973 1
1974 1
1976 3
1977 1
1979 1
1980 2
1982 1
1984 1
1985 2
1987 1
1989 1
1990 1
1992 3
1993 1
1994 2
1995 4
1996 1
1997 3
1998 3
1999 1
2000 6
2001 3
2002 5
2003 10
2004 6
2005 7
2006 4
2007 4
2008 3
2009 4
2010 2
2011 3
2012 7
2013 3
2014 5
2015 6
2016 9
2017 7
2018 2
2019 4
2020 3
2021 3
2022 2
2023 3

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136 results

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Page 1
Glucose transporters: structure, function and consequences of deficiency.
Brown GK. Brown GK. J Inherit Metab Dis. 2000 May;23(3):237-46. doi: 10.1023/a:1005632012591. J Inherit Metab Dis. 2000. PMID: 10863940 Review.
GLUT1 deficiency produces a seizure disorder with low glucose concentration in cerebrospinal fluid and GLUT2 deficiency is the basis of the Fanconi-Bickel syndrome, which resembles type I glycogen storage disease....
GLUT1 deficiency produces a seizure disorder with low glucose concentration in cerebrospinal fluid and GLUT2 deficiency is the basis of the …
The Fanconi Anemia Pathway and Fertility.
Tsui V, Crismani W. Tsui V, et al. Trends Genet. 2019 Mar;35(3):199-214. doi: 10.1016/j.tig.2018.12.007. Epub 2019 Jan 22. Trends Genet. 2019. PMID: 30683429 Review.
Fanconi anemia (FA) is a life-threatening syndrome characterized by bone marrow failure and cancer predispositions. ...
Fanconi anemia (FA) is a life-threatening syndrome characterized by bone marrow failure and cancer predispositions. ...
Fanconi Syndrome Secondary to Sodium Valproate Therapy: Experience and Literature Review.
Sturla Álvarez DA, Sánchez Marcos E, de Lucas Collantes C, Cantarín Extremera V, Soto Insuga V, Aparicio López C. Sturla Álvarez DA, et al. Pediatr Neurol. 2022 May;130:53-59. doi: 10.1016/j.pediatrneurol.2022.03.001. Epub 2022 Mar 12. Pediatr Neurol. 2022. PMID: 35364461 Review.
BACKGROUND: Fanconi syndrome (FS) can be of primary or secondary origin. Some cases of FS secondary to the use of sodium valproate (VPA) have been described, mostly in children with severe psychomotor retardation who are fed by feeding device. ...A review of the pub …
BACKGROUND: Fanconi syndrome (FS) can be of primary or secondary origin. Some cases of FS secondary to the use of sodium valpr …
[Tenofovir nephrotoxicity].
Isnard-Bagnis C, Aloy B, Deray G, Tourret J. Isnard-Bagnis C, et al. Nephrol Ther. 2016 Jun;12(3):179-89. doi: 10.1016/j.nephro.2016.01.002. Epub 2016 Mar 24. Nephrol Ther. 2016. PMID: 27017518 Review. French.
In case of cytoplasmic accumulation, tenofovir inhibits mitochondrial DNA polymerase gamma, which causes a dysfunction of the respiratory chain, and in turn an alteration of the energy-deprived cells. Fanconi syndrome is the clinical expression of tenofovir acute to …
In case of cytoplasmic accumulation, tenofovir inhibits mitochondrial DNA polymerase gamma, which causes a dysfunction of the respiratory ch …
Drug-induced acid-base disorders.
Kitterer D, Schwab M, Alscher MD, Braun N, Latus J. Kitterer D, et al. Pediatr Nephrol. 2015 Sep;30(9):1407-23. doi: 10.1007/s00467-014-2958-5. Epub 2014 Nov 5. Pediatr Nephrol. 2015. PMID: 25370778 Review.
Drug-induced ABDs can be classified into five different categories in terms of their pathophysiology: (1) metabolic acidosis caused by acid overload, which may occur through accumulation of acids by endogenous (e.g., lactic acidosis by biguanides, propofol-related syndrome …
Drug-induced ABDs can be classified into five different categories in terms of their pathophysiology: (1) metabolic acidosis caused by acid …
Novel Fanconi renotubular syndromes provide insights in proximal tubule pathophysiology.
Lemaire M. Lemaire M. Am J Physiol Renal Physiol. 2021 Feb 1;320(2):F145-F160. doi: 10.1152/ajprenal.00214.2020. Epub 2020 Dec 7. Am J Physiol Renal Physiol. 2021. PMID: 33283647 Free article. Review.
The various forms of Fanconi renotubular syndromes (FRTS) offer significant challenges for clinicians and present unique opportunities for scientists who study proximal tubule physiology. ...Although the classic forms of FRTS will be presented (e.g., Dent disease or …
The various forms of Fanconi renotubular syndromes (FRTS) offer significant challenges for clinicians and present unique oppor …
Chromosome instability syndromes.
Taylor AM. Taylor AM. Best Pract Res Clin Haematol. 2001 Sep;14(3):631-44. doi: 10.1053/beha.2001.0158. Best Pract Res Clin Haematol. 2001. PMID: 11640873 Review.
The chromosome instability syndromes, ataxia telangiectasia (A-T), Fanconi anaemia (FA) and Bloom syndrome (BS) have been known for many years. More recently Nijmegen breakage syndrome (NBS) and ataxia telangiectasia-like disorder (ATLD) have been identified. …
The chromosome instability syndromes, ataxia telangiectasia (A-T), Fanconi anaemia (FA) and Bloom syndrome (BS) have been know …
Learning Physiology From Inherited Kidney Disorders.
van der Wijst J, Belge H, Bindels RJM, Devuyst O. van der Wijst J, et al. Physiol Rev. 2019 Jul 1;99(3):1575-1653. doi: 10.1152/physrev.00008.2018. Physiol Rev. 2019. PMID: 31215303 Free article. Review.
These include inherited disorders causing a dysfunction of the proximal tubule (renal Fanconi syndrome), with emphasis on epithelial differentiation and receptor-mediated endocytosis, or affecting the reabsorption of glucose, the handling of uric acid, and the reabs …
These include inherited disorders causing a dysfunction of the proximal tubule (renal Fanconi syndrome), with emphasis on epit …
Renal tubular acidosis.
Rothstein M, Obialo C, Hruska KA. Rothstein M, et al. Endocrinol Metab Clin North Am. 1990 Dec;19(4):869-87. Endocrinol Metab Clin North Am. 1990. PMID: 2081516 Review.
It is frequently accompanied by diffuse proximal tubule transport defects with aminoaciduria, glycosuria, hyperphosphaturia, and so forth (Fanconi syndrome). dRTA is associated with a high incidence of nephrolithiasis, nephrocalcinosis, osteodystrophy, and growth re …
It is frequently accompanied by diffuse proximal tubule transport defects with aminoaciduria, glycosuria, hyperphosphaturia, and so forth ( …
Nijmegen breakage syndrome (NBS).
Chrzanowska KH, Gregorek H, Dembowska-Bagińska B, Kalina MA, Digweed M. Chrzanowska KH, et al. Orphanet J Rare Dis. 2012 Feb 28;7:13. doi: 10.1186/1750-1172-7-13. Orphanet J Rare Dis. 2012. PMID: 22373003 Free PMC article. Review.
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive syndrome of chromosomal instability mainly characterized by microcephaly at birth, combined immunodeficiency and predisposition to malignancies. ...In fact, NBS was most commonly confused with Fanconi …
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive syndrome of chromosomal instability mainly characterized by mic …
136 results