Results 21 to 30 of about 6,550 (239)
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
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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
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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
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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
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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
Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence. [PDF]
, 2020 CBS deficient individuals undergoing betaine supplementation without sufficient dietary methionine restriction can develop severe hypermethioninemia and brain edema. Brain edema has also been observed in individuals with severe hypermethioninemia without
Barea, Jaime J +10 more
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Urology Case Reports, 2021 Cystinuria is an inherited disease, and the defective reabsorption of cysteine causes often requires operations for large urinary stones from childhood.
Tomoki Okada +5 more
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Hypotonia–cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression
Annals of Clinical and Translational Neurology, 2021 Two siblings presented similarly with congenital hypotonia, lactic acidosis, and failure to thrive. Later in childhood, the brother developed cystinuria and nephrolithiasis whereas the older sister suffered from cystinuria and chronic neurobehavioral ...
Atif Towheed +8 more
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