Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
1963 5
1964 3
1965 4
1966 6
1967 4
1968 6
1969 2
1970 1
1971 6
1972 1
1973 4
1974 1
1975 3
1976 3
1977 2
1978 1
1979 1
1980 1
1981 2
1982 2
1983 2
1986 1
1987 1
1989 3
1990 1
1991 1
1992 1
1994 1
1995 2
1996 1
1997 4
1998 2
1999 1
2000 2
2001 5
2002 1
2003 2
2004 5
2005 3
2006 2
2007 2
2008 5
2009 2
2010 1
2011 7
2012 2
2013 1
2014 2
2015 2
2016 2
2017 2
2018 2
2019 1
2020 1
2021 1
2022 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

127 results

Results by year

Filters applied: . Clear all
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.
Fanconi syndrome, also known as the DeToni, Debre, Fanconi syndrome is a global dysfunction of the proximal tubule characterized by glucosuria, phosphaturia, generalized aminoaciduria, and type II renal tubular acidosis. Often there is hypokalemia, sodium wasting, and dehy …
Fanconi syndrome, also known as the DeToni, Debre, Fanconi syndrome is a global dysfunction of the proximal tubule characterized by glucosur …
The SLC3 and SLC7 families of amino acid transporters.
Fotiadis D, Kanai Y, Palacín M. Fotiadis D, et al. Mol Aspects Med. 2013 Apr-Jun;34(2-3):139-58. doi: 10.1016/j.mam.2012.10.007. Mol Aspects Med. 2013. PMID: 23506863 Review.
Finally, we describe the link between specific mutations in HATs and the primary inherited aminoacidurias, cystinuria and lysinuric protein intolerance....
Finally, we describe the link between specific mutations in HATs and the primary inherited aminoacidurias, cystinuria and lysinuric p …
Cystinuria: an update on pathophysiology, genetics, and clinical management.
D'Ambrosio V, Capolongo G, Goldfarb D, Gambaro G, Ferraro PM. D'Ambrosio V, et al. Pediatr Nephrol. 2022 Aug;37(8):1705-1711. doi: 10.1007/s00467-021-05342-y. Epub 2021 Nov 23. Pediatr Nephrol. 2022. PMID: 34812923 Review.
Cystinuria is the most common genetic cause of nephrolithiasis in children. It is considered a heritable aminoaciduria as the genetic defect affects the reabsorption of cystine and three other amino acids (ornithine, lysine, and arginine) in the renal proximal tubule. ...
Cystinuria is the most common genetic cause of nephrolithiasis in children. It is considered a heritable aminoaciduria as the genetic …
AMINOACIDURIA.
EFRON ML. EFRON ML. N Engl J Med. 1965 May 27;272:1107-13 CONCL. doi: 10.1056/NEJM196505272722107. N Engl J Med. 1965. PMID: 14281555 Review. No abstract available.
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 retardati …
It is frequently accompanied by diffuse proximal tubule transport defects with aminoaciduria, glycosuria, hyperphosphaturia, and so f …
[CITRULLINURIA].
FREYCON F, FREYCON MT. FREYCON F, et al. Pediatrie. 1963;18:847-9. Pediatrie. 1963. PMID: 14106631 Review. French. No abstract available.
ACE2 and gut amino acid transport.
Camargo SMR, Vuille-Dit-Bille RN, Meier CF, Verrey F. Camargo SMR, et al. Clin Sci (Lond). 2020 Nov 13;134(21):2823-2833. doi: 10.1042/CS20200477. Clin Sci (Lond). 2020. PMID: 33140827 Review.
B0AT1 mutations cause Hartnup disorder, a condition characterized by neutral aminoaciduria and, in some cases, pellagra-like symptoms, such as photosensitive rash, diarrhea, and cerebellar ataxia. ...
B0AT1 mutations cause Hartnup disorder, a condition characterized by neutral aminoaciduria and, in some cases, pellagra-like symptoms …
[Interstitial nephritis].
Halbritter J, Mayer C, Rasche FM, Amann K, Lindner TH. Halbritter J, et al. Internist (Berl). 2009 Sep;50(9):1111-25. doi: 10.1007/s00108-009-2463-2. Internist (Berl). 2009. PMID: 19690821 Review. German.
Interstitial nephritis often leads to characteristic and detectable partial tubular disorders such as tubular proteinuria (alpha(1)-microglobulin), phosphaturia with hypophosphatemia, aminoaciduria, diminished H(+) secretion with metabolic acidosis with inadequate high uri …
Interstitial nephritis often leads to characteristic and detectable partial tubular disorders such as tubular proteinuria (alpha(1)-microglo …
Amino Acid Transport Across the Mammalian Intestine.
Bröer S, Fairweather SJ. Bröer S, et al. Compr Physiol. 2018 Dec 13;9(1):343-373. doi: 10.1002/cphy.c170041. Compr Physiol. 2018. PMID: 30549024 Review.
A number of rare inherited disorders have contributed to the identification of amino acid transporters in epithelial cells of the small intestine, in particular cystinuria, lysinuric protein intolerance, Hartnup disorder, iminoglycinuria, and dicarboxylic aminoaciduria. Th …
A number of rare inherited disorders have contributed to the identification of amino acid transporters in epithelial cells of the small inte …
Interactions of vitamin D and the proximal tubule.
Chesney RW. Chesney RW. Pediatr Nephrol. 2016 Jan;31(1):7-14. doi: 10.1007/s00467-015-3050-5. Epub 2015 Jan 25. Pediatr Nephrol. 2016. PMID: 25618772 Review.
Severe vitamin D deficiency (reduction in serum 25(OH)D concentration) in infants and children can cause features of the Fanconi syndrome, including phosphaturia, glycosuria, aminoaciduria, and renal tubular acidosis. This indicates that vitamin D and its metabolites influ …
Severe vitamin D deficiency (reduction in serum 25(OH)D concentration) in infants and children can cause features of the Fanconi syndrome, i …
127 results