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