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The serum and glucocorticoid inducible kinases SGK1-3 stimulate the neutral amino acid transporter SLC6A19.
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61
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Bohmer C...Palmada M
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20511718 |
2010 |
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Persistence of the common Hartnup disease D173N allele in populations of European origin.
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61
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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.
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61
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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.
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61
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Stride A...Hattersley AT
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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.
54
61
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Bingham C...Hattersley AT
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11522670 |
2001 |
| 6 |
The amino acid transport system b(o,+) and cystinuria.
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61
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Palacin M...Zorzano A
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11396607 |
2001 |
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Mutations in CLCN5 chloride channel in Japanese patients with low molecular weight proteinuria.
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61
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Morimoto T...Marumo F
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9596078 |
1998 |
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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.
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Chillaron J...Palacin M
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| 9 |
Familial progressive renal tubulopathy.
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Furuse A...Matsuda I
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| 10 |
Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio.
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Haijes HA...Jans JJM
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31908951 |
2020 |
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Effects of Proximal Tubule Shortening on Protein Excretion in a Lowe Syndrome Model.
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Gliozzi ML...Weisz OA
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| 12 |
Description of a transient proximal tubulopathy induced by amino acids perfusion in peptide receptor radionuclide therapy: A case report.
61
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Lenain R...Provot F
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31876733 |
2019 |
| 13 |
Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease.
61
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Pillai NR...Scott DA
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31520464 |
2019 |
| 14 |
Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease.
61
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Olahova M...Sayer JA
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Transient Fanconi Syndrome After Treatment with Firocoxib, Cefadroxil, Tramadol, and Famotidine in a Maltese.
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Ahn JO...Youn HY
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2019 |
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The impact of p53 on aristolochic acid I-induced nephrotoxicity and DNA damage in vivo and in vitro.
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Sborchia M...Arlt VM
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31602497 |
2019 |
| 17 |
Clinical spectrum of BCS1L Mitopathies and their underlying structural relationships.
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Baker RA...Mark PR
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30582773 |
2019 |
| 18 |
Fanconi Syndrome.
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Foreman JW
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30454741 |
2019 |
| 19 |
Deferasirox - a rarer cause of Fanconi syndrome.
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Khan I...Patel J
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2019 |
| 20 |
Tenofovir and Severe Symptomatic Hypophosphatemia.
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Kichloo A...Goldar GE
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2019 |
| 21 |
Amino Acid Transport Across the Mammalian Intestine.
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Broer S...Fairweather SJ
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30549024 |
2018 |
| 22 |
Adult Idiopathic Renal Fanconi Syndrome: A Case Report.
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Park DJ...Kim GH
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30899310 |
2018 |
| 23 |
TINU-associated Fanconi syndrome: a case report and review of literature.
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Vo B...Yildiz H
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30340545 |
2018 |
| 24 |
Legionella Pneumonia Complicated with Acquired Fanconi Syndrome.
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Koda R...Narita I
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29877286 |
2018 |
| 25 |
Acquired Fanconi syndrome secondary to light chain deposition disease associated with monoclonal gammopathy of renal significance: A case report.
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Tu H...Hu Y
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30200082 |
2018 |
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Cooperation of Antiporter LAT2/CD98hc with Uniporter TAT1 for Renal Reabsorption of Neutral Amino Acids.
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Vilches C...Palacin M
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29610403 |
2018 |
| 27 |
Fanconi syndrome and neonatal diabetes: phenotypic heterogeneity in patients with GLUT2 defects.
61
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Khandelwal P...Bagga A
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29116606 |
2018 |
| 28 |
Glucosuria without diabetes: key to the diagnosis of fragility fractures due to Fanconi syndrome.
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Alacapa LF...Orillaza NJS
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29735496 |
2018 |
| 29 |
Fanconi Syndrome in Irish Wolfhound Siblings.
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Bommer NX...Simpson JW
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29558216 |
2018 |
| 30 |
Acute Lymphoblastic Leukemia Presenting as Fanconi Syndrome.
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Yoshida T...Suzuki H
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29515412 |
2018 |
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Downregulation of SLC7A7 Triggers an Inflammatory Phenotype in Human Macrophages and Airway Epithelial Cells.
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Rotoli BM...Dall'Asta V
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29616026 |
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Congenital unruptured aneurysm of sinus of Valsalva, quadricuspid aortic valve, and ascending aortic aneurysm associated with genetic leukoencephalopathy in an infant: A new syndrome?
61
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Malakan Rad E...Pouraliakbar H
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28994146 |
2017 |
| 33 |
New mutations in the SLC7A7 gene of two chinese sisters with lysinuric protein intolerance.
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Zhang G...Cao L
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29058386 |
2017 |
| 34 |
CYSTINURIA: Crystals that Make a Baby Cry.
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Trivedi DJ...Kamble PS
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28811699 |
2017 |
| 35 |
Characterization of aminoaciduria and hypoaminoacidemia in dogs with hepatocutaneous syndrome.
61
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Loftus JP...Lucia TA
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28541155 |
2017 |
| 36 |
Successful treatment with glucocorticoid for secondary Fanconi syndrome caused by sarcoidosis.
61
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Omura D...Otsuka F
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25698227 |
2017 |
| 37 |
Acquired Fanconi syndrome in two dogs following long-term consumption of pet jerky treats in Japan: case report.
61
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Yabuki A...Yamato O
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28381666 |
2017 |
| 38 |
Renal manifestations of primary mitochondrial disorders.
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Finsterer J...Scorza FA
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28515908 |
2017 |
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Renal Fanconi Syndrome and Hypophosphatemic Rickets in the Absence of Xenotropic and Polytropic Retroviral Receptor in the Nephron.
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Ansermet C...Firsov D
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27799484 |
2017 |
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Aminoaciduria Caused by Fanconi Syndrome in a Heifer.
61
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Cesbron N...Herve J
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28109116 |
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| 41 |
Amino Acid (Leucine) Chromatography: A Study of Branched-Chain Aminoaciduria in Type 2 Diabetes.
61
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Kolanu BR...Kandi V
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28413737 |
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Current anti-myeloma therapies in renal manifestations of monoclonal light chain-associated Fanconi syndrome: a retrospective series of 49 patients.
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Vignon M...Fermand JP
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27435002 |
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Glomerular and Tubular Renal Function after Repeated Once-Daily Tobramycin Courses in Cystic Fibrosis Patients.
61
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Stehling F...Mellies U
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28133546 |
2017 |
| 44 |
Other organ involvement and clinical aspects of Wilson disease.
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Dziezyc K...Czlonkowska A
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28433099 |
2017 |
| 45 |
Gonadotrophin abnormalities in an infant with Lowe syndrome.
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Warner BE...Burren CP
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28469921 |
2017 |
| 46 |
mTOR Regulates Endocytosis and Nutrient Transport in Proximal Tubular Cells.
61
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Grahammer F...Theilig F
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27297946 |
2017 |
| 47 |
Acquired Fanconi syndrome in four cats treated with chlorambucil.
61
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Reinert NC...Feldman DG
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26170278 |
2016 |
| 48 |
Phenotype of Dent Disease in a Cohort of Indian Children.
61
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Bhardwaj S...Bagga A
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27889724 |
2016 |
| 49 |
Unusual association between lysinuric protein intolerance and moyamoya vasculopathy.
61
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Ghilain V...Nassogne MC
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27321952 |
2016 |
| 50 |
Imbalance of plasma amino acids, metabolites and lipids in patients with lysinuric protein intolerance (LPI).
61
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Kurko J...Mykkanen J
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27506743 |
2016 |
