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The serum and glucocorticoid inducible kinases SGK1-3 stimulate the neutral amino acid transporter SLC6A19.
53
62
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Bohmer C...Palmada M
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20511718 |
2010 |
2 |
Persistence of the common Hartnup disease D173N allele in populations of European origin.
53
62
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Azmanov DN...Cavanaugh JA
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17555458 |
2007 |
3 |
A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria.
53
62
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Magen D...Skorecki K
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15610225 |
2005 |
4 |
Serum amino acids in patients with mutations in the hepatocyte nuclear factor-1 alpha gene.
53
62
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Stride A...Hattersley AT
|
15270800 |
2004 |
5 |
The generalized aminoaciduria seen in patients with hepatocyte nuclear factor-1alpha mutations is a feature of all patients with diabetes and is associated with glucosuria.
53
62
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Bingham C...Hattersley AT
|
11522670 |
2001 |
6 |
The amino acid transport system b(o,+) and cystinuria.
53
62
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Palacin M...Zorzano A
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11396607 |
2001 |
7 |
Mutations in CLCN5 chloride channel in Japanese patients with low molecular weight proteinuria.
53
62
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Morimoto T...Marumo F
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9596078 |
1998 |
8 |
Obligatory amino acid exchange via systems bo,+-like and y+L-like. A tertiary active transport mechanism for renal reabsorption of cystine and dibasic amino acids.
53
62
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Chillaron J...Palacin M
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8663357 |
1996 |
9 |
Familial progressive renal tubulopathy.
53
62
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Furuse A...Matsuda I
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1582058 |
1992 |
10 |
Clinical Features and Genetic Sequencing of Children with Fanconi-Bickel Syndrome.
62
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Govindarajan S...Bagga A
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36324017 |
2022 |
11 |
Outcome of Acquired Fanconi Syndrome Associated with Ingestion of Jerky Treats in 30 Dogs.
62
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Nybroe S...Kieler IN
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36428419 |
2022 |
12 |
Excretion of excess nitrogen and increased survival by loss of SLC6A19 in a mouse model of ornithine transcarbamylase deficiency.
62
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Belanger AJ...Yew NS
|
36220785 |
2022 |
13 |
Identification of two novel variants of BCS1L gene in a patient with classical GRACILE syndrome.
62
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Guo W...Shao L
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35960161 |
2022 |
14 |
Atypical manifestations of infantile-onset nephropathic cystinosis: a diagnostic challenge.
62
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Deepthi B...Rajavelu TN
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35048353 |
2022 |
15 |
Cystinuria: an update on pathophysiology, genetics, and clinical management.
62
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D'Ambrosio V...Ferraro PM
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34812923 |
2022 |
16 |
Acute kidney injury manifesting as renal tubular acidosis with proximal and distal renal tubular dysfunction in a dog with acute pancreatitis.
62
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Barton JC...O'Connell EM
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35129879 |
2022 |
17 |
Aminoaciduria and metabolic dysregulation during diabetic ketoacidosis: Results from the diabetic kidney alarm (DKA) study.
62
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Melena I...Bjornstad P
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35523653 |
2022 |
18 |
Fanconi syndrome in a patient receiving pre-exposure prophylaxis for HIV infection: case report.
62
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Drak D...Gracey DM
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35614021 |
2022 |
19 |
Transient Type 3 Renal Tubular Acidosis during Cyclic Vomiting Syndrome.
62
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Kumagai N...Ikezumi Y
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35354692 |
2022 |
20 |
Pediatric metanephric adenoma with Fanconi-Bickel syndrome: a case report and review of literature.
62
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Sarhan OM...Al Kawai F
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35511306 |
2022 |
21 |
BCS1L mutations produce Fanconi syndrome with developmental disability.
62
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Kanako KI...Nozu K
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34650211 |
2022 |
22 |
Renal Salt-Wasting Syndrome Induced by Neoadjuvant Chemotherapy Containing Cisplatin - A Case Report.
62
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Jinsi N...Ravi R
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35283575 |
2022 |
23 |
Clinical features and amino acid profiles of dogs with hepatocutaneous syndrome or hepatocutaneous-associated hepatopathy.
62
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Loftus JP...Peters-Kennedy J
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34477245 |
2022 |
24 |
Kidney Tubular Damage Secondary to Deferasirox: Systematic Literature Review.
62
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Scoglio M...Milani GP
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34943300 |
2021 |
25 |
Knockout of the Amino Acid Transporter SLC6A19 and Autoimmune Diabetes Incidence in Female Non-Obese Diabetic (NOD) Mice.
62
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Waters MF...Nolan CJ
|
34677380 |
2021 |
26 |
S-Methyl-L-Ergothioneine to L-Ergothioneine Ratio in Urine Is a Marker of Cystine Lithiasis in a Cystinuria Mouse Model.
62
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Lopez de Heredia M...Nunes V
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34573056 |
2021 |
27 |
Bacterial Profile and asymptomatic bacteriuria among pregnant women in Africa: A systematic review and meta analysis.
62
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Awoke N...Obsa MS
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34386744 |
2021 |
28 |
Phenotypic variability in distal acidification defects associated with WDR72 mutations.
62
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Khandelwal P...Bagga A
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33033857 |
2021 |
29 |
Acquired Fanconi Syndrome in a Patient with Nontyphoidal Salmonella Bacteremia.
62
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Ryuge A...Maruyama S
|
32999244 |
2021 |
30 |
Clinicopathological characteristics and long-term prognosis of monoclonal immunoglobulin light chain associated Fanconi syndrome.
62
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Chen Z...Chen L
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33796233 |
2021 |
31 |
Ifosfamide-induced nephrogenic diabetes insipidus responsive to supraphysiologic doses of intravenous desmopressin.
62
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Sohail MA...Rincon-Choles H
|
34235046 |
2021 |
32 |
ACE2 and gut amino acid transport.
62
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Camargo SMR...Verrey F
|
33140827 |
2020 |
33 |
SARS-CoV-2 causes a specific dysfunction of the kidney proximal tubule.
62
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Werion A...Cliniques universitaires Saint-Luc (CUSL) COVID-19 Research Group
|
32791255 |
2020 |
34 |
Tissue-specific deletion of mouse basolateral uniporter LAT4 (Slc43a2) reveals its crucial role in small intestine and kidney amino acid transport.
62
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Rajendran A...Verrey F
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32841365 |
2020 |
35 |
A global Slc7a7 knockout mouse model demonstrates characteristic phenotypes of human lysinuric protein intolerance.
62
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Stroup BM...Burrage LC
|
32504080 |
2020 |
36 |
Lysinuric protein intolerance: Pearls to detect this otherwise easily missed diagnosis.
62
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Alqarajeh F...Ferreira CR
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33134088 |
2020 |
37 |
Renal tubular arginase-2 participates in the formation of the corticomedullary urea gradient and attenuates kidney damage in ischemia-reperfusion injury in mice.
62
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Ansermet C...Firsov D
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32072766 |
2020 |
38 |
Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio.
62
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Haijes HA...Jans JJM
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31908951 |
2020 |
39 |
Effects of Proximal Tubule Shortening on Protein Excretion in a Lowe Syndrome Model.
62
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Gliozzi ML...Weisz OA
|
31676724 |
2020 |
40 |
Update on clinical screening of maturity-onset diabetes of the young (MODY).
62
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Peixoto-Barbosa R...Giuffrida FMA
|
32528556 |
2020 |
41 |
Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease.
62
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Pillai NR...Scott DA
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31520464 |
2019 |
42 |
Description of a transient proximal tubulopathy induced by amino acids perfusion in peptide receptor radionuclide therapy: A case report.
62
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Lenain R...Provot F
|
31876733 |
2019 |
43 |
Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease.
62
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Olahova M...Sayer JA
|
31435670 |
2019 |
44 |
Transient Fanconi Syndrome After Treatment with Firocoxib, Cefadroxil, Tramadol, and Famotidine in a Maltese.
62
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Ahn JO...Youn HY
|
31525093 |
2019 |
45 |
The impact of p53 on aristolochic acid I-induced nephrotoxicity and DNA damage in vivo and in vitro.
62
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Sborchia M...Arlt VM
|
31602497 |
2019 |
46 |
Clinical spectrum of BCS1L Mitopathies and their underlying structural relationships.
62
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Baker RA...Mark PR
|
30582773 |
2019 |
47 |
Fanconi Syndrome.
62
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Foreman JW
|
30454741 |
2019 |
48 |
Tenofovir and Severe Symptomatic Hypophosphatemia.
62
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Kichloo A...Goldar GE
|
31142127 |
2019 |
49 |
Deferasirox - a rarer cause of Fanconi syndrome.
62
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Khan I...Patel J
|
31528290 |
2019 |
50 |
Adult Idiopathic Renal Fanconi Syndrome: A Case Report.
62
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Park DJ...Kim GH
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30899310 |
2018 |