Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification.
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Nephrolithiasis related to inborn metabolic diseasesChanging paradigms in diagnosis of inherited defects associated with urolithiasisCystinuria: 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.Multimodal treatments of cystine stones: an observational, retrospective single-center analysis of 14 cases.Clinical review. Kidney stones 2012: pathogenesis, diagnosis, and management.New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.CKD and Its Risk Factors among Patients with Cystinuria.Hypouricaemia and hyperuricosuria in familial renal glucosuria.Digenic Inheritance in Cystinuria Mouse Model.Clinical and genetic analysis of patients with cystinuria in the United Kingdom.Update on cystinuria.Health-related quality of life (HRQoL) in cystine compared with non-cystine stone formersCystine growth inhibition through molecular mimicry: a new paradigm for the prevention of crystal diseases.Current medical treatment in pediatric urolithiasisCellular and molecular gateways to urolithiasis: a new insight.Urolithiasis in children: medical approachDelineation of cystinuria in Saudi Arabia: A case seriesPersistent Leukocyturia Was a Clue to Diagnosis of Cystinuria in a Female PatientGenetic determinants of urolithiasis.Genotype and Phenotype Analysis in Pediatric Patients with CystinuriaSLC3A1 and SLC7A9 mutations in autosomal recessive or dominant canine cystinuria: a new classification systemCystinuria: mechanisms and management.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?Metabolic disturbances in Chinese children with urolithiasis: a single center report.Clinical utility gene card for: Cystinuria.Cystinuria-specific rBAT(R365W) mutation reveals two translocation pathways in the amino acid transporter rBAT-b0,+AT.Ontogenic expression of the amino acid transporter b(0,+)AT in suckling Huanjiang piglets: effect of intra-uterine growth restriction.Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients.Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients.Association between cystine urolithiasis and neuter status of dogs within the UK.Spectrum of mutations in cystinuria patients presenting with prenatal hyperechoic colon.CYSTINURIA: Crystals that Make a Baby Cry.Gender-related effects on urine L-cystine metastability.The genetic diversity of cystinuria in a UK population of patients.
P2860
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P2860
Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification.
description
2002 nî lūn-bûn
@nan
2002年の論文
@ja
2002年学术文章
@wuu
2002年学术文章
@zh
2002年学术文章
@zh-cn
2002年学术文章
@zh-hans
2002年学术文章
@zh-my
2002年学术文章
@zh-sg
2002年學術文章
@yue
2002年學術文章
@zh-hant
name
Comparison between SLC3A1 and ...... need for a new classification.
@en
Comparison between SLC3A1 and ...... need for a new classification.
@nl
type
label
Comparison between SLC3A1 and ...... need for a new classification.
@en
Comparison between SLC3A1 and ...... need for a new classification.
@nl
prefLabel
Comparison between SLC3A1 and ...... need for a new classification.
@en
Comparison between SLC3A1 and ...... need for a new classification.
@nl
P2093
P50
P1476
Comparison between SLC3A1 and ...... need for a new classification
@en
P2093
Alberto Ponzone
Antonio Zorzano
Claudia Pontesilli
Ercole Beccia
Ferran Rousaud
Gianfranco Rizzoni
Leopoldo Zelante
Luca Dello Strologo
Maite Jimenez-Vidal
P304
P356
10.1097/01.ASN.0000029586.17680.E5
P577
2002-10-01T00:00:00Z