Results 61 to 70 of about 2,812 (171)

Germline Whole‐Exome Sequencing in Non‐Smoker Lung Cancer Patients Reveals Pathogenic Variants in Lung Cancer Driver Genes

Genes, Chromosomes and Cancer, Volume 64, Issue 3, March 2025.
ABSTRACT Approximately 10%–15% of all lung cancers arise in non‐smokers. Although there are no established aetiological factors, non‐smokers with a family history of cancer have an increased risk of lung cancer, implying host genetic factors in lung cancer susceptibility. We sought to identify, in a cohort of 75 patients recruited before lung lobectomy,
Giovanni Carapezza, Simone Paolo Minardi, Sara Noci, Giulia Pintarelli, Susanna Zanutto, Matteo Incarbone, Davide Tosi, Tommaso Antonio Dragani, Francesca Colombo, Marco Alessandro Pierotti, Manuela Gariboldi   +10 more
wiley   +1 more source

PROPHYLAXIA OF CYSTINE CALCULOSIS BY α-MERCAPTOPROPIONYLGLYCINE ADMINISTERED CONTINUOUSLY OR EVERY OTHER DAY

Journal of Biological Research
Cystinuria is a complex autosomal recessive inherited disorder found in approximately one out of 7000 births. The disease affects the renal tubular reabsorption of certain filtered amino acids, i.e., cystine, lysine, arginine and ornithine. Owing to the
A. Berio, A. Piazzi
doaj   +1 more source

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, Ali Delibaş, Hakan Taşkınlar, Ali Naycı   +3 more
doaj   +1 more source

Metabolism in cystinuria

The Journal of Physiology, 1909
n ...
openaire   +4 more sources

Cystinuria [PDF]

Transactions of the Royal Academy of Medicine in Ireland, 1891
n ...
openaire   +3 more sources

Renal stones in two children with two rare etiologies

Saudi Journal of Kidney Diseases and Transplantation, 2018
The incidence of urolithiasis in children has shown an increase in recent years which may be attributed to changing dietary patterns, sedentary lifestyles, and obesity.
Gurinder Kumar, Rami Raad AlAni
doaj   +1 more source

Comparative analysis of surgical costs vs. theoretical tiopronin therapy in pediatric cystinuria: a single-center experience from Türkiye

The Turkish Journal of Pediatrics
Background. Cystinuria is a rare autosomal recessive disorder leading to recurrent cystine stone formation, often necessitating repeated surgical interventions.
Sümeyye Sözduyar, Hilmican Ulman, Ali Tekin, İbrahim Ulman, Sibel Tiryaki   +4 more
doaj   +1 more source

Cystine nephrolithiasis: contemporary approaches to patient management

Вестник урологии
Introduction. Cystinuria is a rare genetic disorder characterised by a markedly elevated concentration of cystine in the urine. Due to the low solubility of cystine in urine, patients with cystinuria face a lifelong increased risk of urinary stone ...
V. A. Gelig, E. I. Leonova, D. S. Gorelov, I. V. Semenyakin, N. K. Gadzhiev   +4 more
doaj   +1 more source

Metabolic consequences of cystinuria

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   +1 more source

Treatment of Cystinuria [PDF]

BMJ, 1965
C E, DENT, M, FRIEDMAN, H, GREEN, L C, WATSON   +3 more
openaire   +5 more sources