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The serum and glucocorticoid inducible kinases SGK1-3 stimulate the neutral amino acid transporter SLC6A19.
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Persistence of the common Hartnup disease D173N allele in populations of European origin.
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Azmanov DN...Cavanaugh JA
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A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria.
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Serum amino acids in patients with mutations in the hepatocyte nuclear factor-1 alpha gene.
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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.
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Bingham C...Hattersley AT
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The amino acid transport system b(o,+) and cystinuria.
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Mutations in CLCN5 chloride channel in Japanese patients with low molecular weight proteinuria.
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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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Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio.
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Update on clinical screening of maturity-onset diabetes of the young (MODY).
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Description of a transient proximal tubulopathy induced by amino acids perfusion in peptide receptor radionuclide therapy: A case report.
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Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease.
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Pillai NR...Scott DA
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2019 |
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Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease.
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Transient Fanconi Syndrome After Treatment with Firocoxib, Cefadroxil, Tramadol, and Famotidine in a Maltese.
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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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Clinical spectrum of BCS1L Mitopathies and their underlying structural relationships.
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2019 |
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Fanconi Syndrome.
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Deferasirox - a rarer cause of Fanconi syndrome.
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Tenofovir and Severe Symptomatic Hypophosphatemia.
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Amino Acid Transport Across the Mammalian Intestine.
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Adult Idiopathic Renal Fanconi Syndrome: A Case Report.
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Legionella Pneumonia Complicated with Acquired Fanconi Syndrome.
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TINU-associated Fanconi syndrome: a case report and review of literature.
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Acquired Fanconi syndrome secondary to light chain deposition disease associated with monoclonal gammopathy of renal significance: A case report.
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Cooperation of Antiporter LAT2/CD98hc with Uniporter TAT1 for Renal Reabsorption of Neutral Amino Acids.
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Fanconi syndrome and neonatal diabetes: phenotypic heterogeneity in patients with GLUT2 defects.
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Fanconi Syndrome in Irish Wolfhound Siblings.
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Glucosuria without diabetes: key to the diagnosis of fragility fractures due to Fanconi syndrome.
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Acute Lymphoblastic Leukemia Presenting as Fanconi Syndrome.
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Downregulation of SLC7A7 Triggers an Inflammatory Phenotype in Human Macrophages and Airway Epithelial Cells.
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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?
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New mutations in the SLC7A7 gene of two chinese sisters with lysinuric protein intolerance.
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CYSTINURIA: Crystals that Make a Baby Cry.
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Characterization of aminoaciduria and hypoaminoacidemia in dogs with hepatocutaneous syndrome.
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Acquired Fanconi syndrome in two dogs following long-term consumption of pet jerky treats in Japan: case report.
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Successful treatment with glucocorticoid for secondary Fanconi syndrome caused by sarcoidosis.
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Renal manifestations of primary mitochondrial disorders.
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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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Aminoaciduria Caused by Fanconi Syndrome in a Heifer.
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Amino Acid (Leucine) Chromatography: A Study of Branched-Chain Aminoaciduria in Type 2 Diabetes.
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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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Gonadotrophin abnormalities in an infant with Lowe syndrome.
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Glomerular and Tubular Renal Function after Repeated Once-Daily Tobramycin Courses in Cystic Fibrosis Patients.
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mTOR Regulates Endocytosis and Nutrient Transport in Proximal Tubular Cells.
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Other organ involvement and clinical aspects of Wilson disease.
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2017 |
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Acquired Fanconi syndrome in four cats treated with chlorambucil.
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