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Cystinuria: an inborn cause of urolithiasisReport of SLC3A1/rBAT gene mutations in Iranian cystinuria patients: A direct sequencing study.Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants.An animal model of type A cystinuria due to spontaneous mutation in 129S2/SvPasCrl mice.Hereditary causes of kidney stones and chronic kidney diseaseClinical review. Kidney stones 2012: pathogenesis, diagnosis, and management.Differential cystine and dibasic amino acid handling after loss of function of the amino acid transporter b0,+AT (Slc7a9) in mice.Potential pharmacologic treatments for cystinuria and for calcium stones associated with hyperuricosuria.Digenic Inheritance in Cystinuria Mouse Model.Clinical and genetic analysis of patients with cystinuria in the United Kingdom.Novel cystine ester mimics for the treatment of cystinuria-induced urolithiasis in a knockout mouse modelCystine growth inhibition through molecular mimicry: a new paradigm for the prevention of crystal diseases.Urine proteomic analysis in cystinuric children with renal stones.Approach to the Adult Kidney Stone FormerThe Clinical Impact of Accurate Cystine Calculi Characterization Using Dual-Energy Computed Tomography.Novel cystine transporter in renal proximal tubule identified as a missing partner of cystinuria-related plasma membrane protein rBAT/SLC3A1.Stable isotope dilution mass spectrometry for membrane transporter quantitation.Infrared vibrational spectroscopy: a rapid and novel diagnostic and monitoring tool for cystinuriaSLC3A1 and SLC7A9 mutations in autosomal recessive or dominant canine cystinuria: a new classification systemLysinuric protein intolerance: reviewing concepts on a multisystem disease.Cystinuria-a urologist's perspective.Transport of amino acids in the kidney.Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine.How should patients with cystine stone disease be evaluated and treated in the twenty-first century?Glutamine transporters in mammalian cells and their functions in physiology and cancer.Remarkable evolutionary relatedness among the enzymes and proteins from the α-amylase family.Carrier subunit of plasma membrane transporter is required for oxidative folding of its helper subunit.Lysine triggers apoptosis through a NADPH oxidase-dependent mechanism in human renal tubular cells.Clinical utility gene card for: Cystinuria.Cystinuria in a patient with 19q12q13.1 deletion.Investigation of LRRC8-Mediated Volume-Regulated Anion Currents in Xenopus Oocytes.Medicine. Stopping the stones.l-Cystine Diamides as l-Cystine Crystallization Inhibitors for Cystinuria.Determination of plasma dibasic amino acids following trimethylsilyl-trifluoroacyl derivatization using gas chromatography-mass spectrometry.Spectrum of mutations in cystinuria patients presenting with prenatal hyperechoic colon.Human intestine luminal ACE2 and amino acid transporter expression increased by ACE-inhibitors.The genetic diversity of cystinuria in a UK population of patients.Oxytosis/Ferroptosis-(Re-) Emerging Roles for Oxidative Stress-Dependent Non-apoptotic Cell Death in Diseases of the Central Nervous System.Systematic Overview of Solid Particles and Their Host Responses.Genetic Causes of Kidney Stones and Kidney Failure
P2860
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P2860
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on June 2010
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Pathophysiology and treatment of cystinuria.
@en
Pathophysiology and treatment of cystinuria.
@nl
type
label
Pathophysiology and treatment of cystinuria.
@en
Pathophysiology and treatment of cystinuria.
@nl
prefLabel
Pathophysiology and treatment of cystinuria.
@en
Pathophysiology and treatment of cystinuria.
@nl
P2093
P2860
P356
P1476
Pathophysiology and treatment of cystinuria.
@en
P2093
Antonio Zorzano
Josep Chillarón
Manuel Palacín
Mariona Font-Llitjós
Virginia Nunes
P2860
P2888
P304
P356
10.1038/NRNEPH.2010.69
P407
P577
2010-06-01T00:00:00Z