Results 21 to 30 of about 6,103 (223)
Clinical Course and Mutational Analysis of Patients with Cystine Stone: A Single-Center Experience
Biomedicines, 2023 Cystinuria is a known genetic disorder. To date, two genes, SLC3A1 and SLC7A9, have been identified as causes of cystinuria. In this study of 10 patients with cystinuria, which is the largest Korean cohort ever studied, we examined the patients ...
Jae Yong Jeong +6 more
doaj +1 more source
Hyperechoic Content of the Fetal Colon Is Not Always Cystinuria—Case Report
Frontiers in Pediatrics, 2022 Cystinuria is a recessively inherited genetic disease causing recurrent kidney stones with risk of kidney failure. The discovery of hyperechoic colonic content on an antenatal ultrasound is considered to be a pathognomic sign of cystinuria.
Antje Knapke +3 more
doaj +1 more source
Cystinuria: An Overview of Diagnosis and Medical Management
Turkish archives of pediatrics, 2022 Cystinuria is a genetic disorder that causes recurrent nephrolithiasis. It is the most common type of monogenic stone disease accounting for 6%-8% of pediatric nephrolithiasis.
Sanober Sadiq, Onur Cil
semanticscholar +1 more source
BMC Medical Genomics, 2023 Background Cystinuria is an autosomal recessive disorder characterized by a cystine transport deficiency in the renal tubules due to mutations in two genes: SLC3A1 and SLC7A9.
Danhua Liu +9 more
doaj +1 more source
Diagnostic Approach in Cystinuria: A Case Report
Trends in Pediatrics, 2021 Cystinuria is an, inherited metabolic disorder progressing with recurrent kidney stones due to impaired reabsorption of dibasic amino acids and arises from mutations in the SLC3A1 and SLC7A9 on chromosome 2.
Selda Bülbül +2 more
doaj +1 more source
A case of cystinuria with a heterozygous mutation presenting with recurrent multiple renal stones in a 14-year-old boy [PDF]
Childhood Kidney Diseases, 2023 Cystinuria, a genetically inherited disorder, is a rare cause of kidney stones. It is characterized by impaired transport of cystine and amino acids in the proximal renal tubule and the small intestine.
Hye Won Cho, Min Hwa Son, Hyung Eun Yim
doaj +1 more source
An animal model of type A cystinuria due to spontaneous mutation in 129S2/SvPasCrl mice. [PDF]
PLoS ONE, 2014 Cystinuria is an autosomal recessive disease caused by the mutation of either SLC3A1 gene encoding for rBAT (type A cystinuria) or SLC7A9 gene encoding for b0,+AT (type B cystinuria).
Marine Livrozet +10 more
doaj +1 more source
Recurrent nephrolithiasis: Cystinuria [PDF]
Medicinski Glasnik Specijalne Bolnice za Bolesti Štitaste Žlezde i Bolesti Metabolizma "Zlatibor", 2016 Lalić Tijana +7 more
doaj +3 more sources
Molecular Syndromology, 2022 Introduction: Hypotonia-cystinuria syndrome is a contiguous gene deletion syndrome that is characterized by hypotonia, developmental delay, and cystinuria type A.
Ilknur Surucu Kara +5 more
semanticscholar +1 more source
Urolithiasis, 2022 Cystinuria is a genetic disorder of cystine transport that accounts for 1–2% of all cases of renal lithiasis. It is characterized by hyperexcretion of cystine in urine and recurrent cystine lithiasis.
Zihan Zhang +11 more
semanticscholar +1 more source