Results 11 to 20 of about 6,631 (231)

Outcomes of Tiopronin and D-Penicillamine Therapy in Pediatric Cystinuria: A Clinical Comparison of Two Cases [PDF]

Reports
Background and Clinical Significance: Cystinuria is the most common genetic cause of pediatric nephrolithiasis, characterized by impaired renal cystine reabsorption and resulting in increased urinary cystine excretion.
Brooke Schaefer, Adinoyi Garba, Xiaoyan Wu   +2 more
doaj   +2 more sources

Nephrotic Syndrome Induced by Tiopronin in a Male Patient with Cystinuria [PDF]

Balkan Journal of Medical Genetics
Cystinuria is a rare, lifelong, autosomal recessive disorder characterized by high urine cystine excretion, leading to chronic and recurrent kidney stone formation. This inherited metabolic disorder occurs due to defective cystine, lysine, ornithine, and
Karanfilovski V, Severova Stojanoska A, Ristovska V, Gjorgjievska J, Tasic V, Arsov T, Dzekova-Vidimliski P, Plaseska-Karanfilska D, Nikolov I, Gjorgjievski N   +9 more
doaj   +2 more sources

Prenatal diagnosis of cystinuria with a heterozygous pathogenic variant in SLC7A9 gene associated with isolated hyperechogenic fetal kidneys: A case report [PDF]

Clinical Case Reports
Key Clinical Message Cystinuria is suspected antenatally by a hyperechogenic fetal colonic content. We report the first prenatal case of autosomal dominant SLC7A9‐related cystinuria associated with isolated hyperechogenic kidneys as the only prenatal ...
Osaretin Pamela Aigbogun, Noémie Vancoppenolle, Sandra Coppens, Martina Marangoni, Elodie Elsen, Marie Cassart, Caroline Gounongbe   +6 more
doaj   +2 more sources

Metabolic consequences of cystinuria [PDF]

BMC Nephrology, 2019
Background Cystinuria is an inherited disorder of renal amino acid transport that causes recurrent nephrolithiasis and significant morbidity in humans. It has an incidence of 1 in 7000 worldwide making it one of the most common genetic disorders in man ...
Lauren E. Woodard, Richard C. Welch, Ruth Ann Veach, Thomas M. Beckermann, Feng Sha, Edward J. Weinman, Talat Alp Ikizler, Jay A. Tischfield, Amrik Sahota, Matthew H. Wilson   +9 more
doaj   +2 more sources

Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine [PDF]

BMC Genomics, 2017
Background Cystinuria is an inherited disease that results in the formation of cystine stones in the kidney, which can have serious health complications.
Henry J. Martell, Kathie A. Wong, Juan F. Martin, Ziyan Kassam, Kay Thomas, Mark N. Wass   +5 more
doaj   +2 more sources

Disruptions in Tiopronin therapy: impacts on clinical outcomes of pediatric cystinuria patients during the COVID-19 pandemic. [PDF]

Urolithiasis
Önal HG, Nalçacioğlu H, Karali DT, Ceyhan Bilgici MN, Aydog O, Özkaya O, Özdem E, Sarikaya S.   +7 more
europepmc   +3 more sources

Treatment of Cystinuria [PDF]

BMJ, 1965
C E, DENT, M, FRIEDMAN, H, GREEN, L C, WATSON   +3 more
openaire   +4 more sources

Epidemiological Evaluation of Neuter Status, Sex, and Breed in Dogs With Cystine Uroliths. [PDF]

J Vet Intern Med
ABSTRACT 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

CYSTINURIA

Journal of Biological Chemistry, 1935
Erwin Brand, George F. Cahill, Richard J. Block   +2 more
openaire   +2 more sources

Cystinuria in Dogs and Cats: What Do We Know after Almost 200 Years?

Animals, 2021
The purpose of this review is to summarize current knowledge on canine and feline cystinuria from available scientific reports. Cystinuria is an inherited metabolic defect characterized by abnormal intestinal and renal amino acid transport in which ...
Simona Kovaříková, Petr Maršálek, Kateřina Vrbová   +2 more
doaj   +1 more source