Results 11 to 20 of about 3,609 (206)
Digenic Inheritance in Cystinuria Mouse Model. [PDF]
PLoS ONE, 2015 Cystinuria is an aminoaciduria caused by mutations in the genes that encode the two subunits of the amino acid transport system b0,+, responsible for the renal reabsorption of cystine and dibasic amino acids. The clinical symptoms of cystinuria relate to
Meritxell Espino +7 more
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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 +2 more sources
Cystinuria: an inborn cause of urolithiasis
Orphanet Journal of Rare Diseases, 2012 Cystinuria (OMIM 220100) is an inborn congenital disorder characterised by a defective cystine metabolism resulting in the formation of cystine stones.
Eggermann Thomas +2 more
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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
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The impact of surgical intervention on renal function in cystinuria
Brazilian Journal of Nephrology, 2018 Introduction: Cystinuria is an autosomal recessive disorder due to intestinal and renal transport defects in cystine and dibasic amino acids, which result in recurrent urolithiasis and surgical interventions.
Serra Sürmeli Döven +3 more
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The effect of selenium supplementation on cystine crystal volume in patients with cystinuria
BioMedicine, 2018 Background: Cystinuria as an autosomal recessive sickness is a relatively rare disease. Formation of cystine stones indicates cystinuria. Few studies are considered the cysteine crystal volume in management of cystinuria.
Mohammadi Mehrdad +6 more
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Prevalence of diagnostic Mendelian kidney disease variants in type 2 diabetes with and without diabetic kidney disease. [PDF]
J Diabetes InvestigWe examined the frequency of diagnostic variants associated with Mendelian kidney disease in patients with type 2 diabetes and compared their prevalence between those with and without DKD. A total of 2177 patients with type 2 diabetes were examined. The prevalences of diagnostic variant of Mendelian kidney disease were 8.6% (DKD +) vs 7.8%, and there ...
Hirakawa Y, Sugawara Y, Nangaku M.
europepmc +2 more sources
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
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Epidemiological Evaluation of Neuter Status, Sex, and Breed in Dogs With Cystine Uroliths. [PDF]
J Vet Intern MedABSTRACT Background The majority of cystine uroliths occur in intact male dogs. Androgen‐dependent (Type III) cystinuria is considered the most common cause. Objectives Identify dog breeds in which castration is likely to decrease the risk of cystine uroliths, the potential effect of delaying castration on cystine urolith formation, and urolith ...
Lulich JP, Ulrich R, Furrow E.
europepmc +2 more sources
Antioxidants, 2021 Cystinuria, a rare inherited aminoaciduria condition, is characterized by the hyperexcretion of cystine, ornithine, lysine, and arginine. Its main clinical manifestation is cystine stone formation in the urinary tract, being responsible for 1–2% total ...
Miguel López de Heredia +8 more
doaj +1 more source