Results 41 to 50 of about 5,415 (212)

Diversity of Phenotype and Genetic Etiology of 23 Cystinuria Saudi Patients: A Retrospective Study

Frontiers in Pediatrics, 2020
Background: Cystinuria is an inborn error of metabolism that manifests with renal stones due to defective renal epithelial cell transport of cystine which resulted from pathogenic variants in the SLC3A1 and/or SLC7A9 genes. Among nephrolithiasis diseases,
Malak Alghamdi, Khalid A. Alhasan, Areej Taha Elawad, Suha Salim, Marwa Abdelhakim, Marwan Nashabat, Rupesh Raina, Jameela Kari, Majid Alfadhel, Majid Alfadhel   +9 more
doaj   +1 more source

Extracorporeal Shockwave Lithotripsy for Cystine Stones in Children: An Observational, Retrospective, Single-Center Analysis

Frontiers in Pediatrics, 2021
Purpose: Cystinuria is a genetic disorder characterized by a defective reabsorption of cystine and dibasic amino acids leading to development of urinary tract calculi from childhood onward. Cystine lithiasis is known to be resistant to fragmentation. The
Nicolas Vinit, Antoine Khoury, Pauline Lopez, Laurence Heidet, Laurence Heidet, Nathalie Botto, Olivier Traxer, Olivier Traxer, Olivier Traxer, Olivia Boyer, Olivia Boyer, Olivia Boyer, Thomas Blanc, Thomas Blanc, Thomas Blanc, Henri B. Lottmann   +15 more
doaj   +1 more source

Comparison of four different algorithms for the calculation of radioimmunoassay standard curves [PDF]

, 1980
Peer ...
Herndl, R., Marschner, I., Scriba, Peter Christian   +2 more
core   +2 more sources

Meta-analysis of genome-wide association studies of anxiety disorders. [PDF]

, 2016
Anxiety disorders (ADs), namely generalized AD, panic disorder and phobias, are common, etiologically complex conditions with a partially genetic basis.
Adkins, D., Aggen, S.H., Bigdeli, T., Boomsma, D., Byrne, E.M., Castelao, E., der Auwera, S.V., Direk, N., Fanous, A., Gordon, S., Grabe, H.J., Hartman, C.A., Heath, A.C., Hek, K., Henders, A.K., Hettema, J.M., Hofman, A., Homuth, G., Hottenga, J.J., Keller, M.C., Kutalik, Z., Lee, M., Madden, P.A., Maher, B.S., Martin, N.G., Medland, S.E., Middeldorp, C.M., Milaneschi, Y., Mirza, S.S., Montgomery, G., Mulder, C.L., Nauck, M., Nivard, M.G., Nolte, I.M., Oldehinkel, A.J., Otowa, T., Penninx, B.W., Pergadia, M.L., Preisig, M., Teumer, A., Tiemeier, H., Uitterlinden, A., van den Oord, E.J., van der Most, P.J., van Oort, F.V., Wolen, A., Wray, N.R.   +46 more
core   +2 more sources

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Clinical profile of a Polish cohort of children and young adults with cystinuria

Renal Failure, 2021
Background Cystinuria is an inherited disorder that results in increased excretion of cystine in the urine. It accounts for about 1–2% of pediatric kidney stones.
Marcin Tkaczyk, Katarzyna Gadomska-Prokop, Iga Załuska-Leśniewska, Kinga Musiał, Jan Zawadzki, Katarzyna Jobs, Tadeusz Porowski, Anna Rogowska-Kalisz, Anna Jander, Merit Kirolos, Adam Haliński, Aleksandra Krzemień, Aleksandra Sobieszczańska-Droździel, Katarzyna Zachwieja, Bodo B. Beck, Przemysław Sikora, Marcin Zaniew   +16 more
doaj   +1 more source

Risks Associated with Drug Treatments for Kidney Stones [PDF]

, 2015
Introduction: Renal stones are one of the most painful medical conditions patients experience. For many they are also a recurrent problem. Fortunately, there are a number of drug therapies available to treat symptoms as well as prevent future stone ...
Borofsky, Michael S., Lingeman, James E., York, Nadya   +2 more
core   +1 more source

Nanophotonic Strategies for Chiral Biosensing: Nanoparticles, Metasurfaces, Magneto‐Optical, and Quantum Approaches

Advanced Photonics Research, Volume 7, Issue 2, February 2026.
Recent advances in nanophotonics‐based chiral biosensing approaches are comprehensively reviewed, highlighting key trends, advantages, and limitations of each technology. Special attention is given to emerging strategies that exploit magneto‐optical and quantum plasmonic phenomena to enhance sensitivity down to the level of a few molecules, or even a ...
Jorge Ricardo Mejía‐Salazar
wiley   +1 more source

The antioxidant l-Ergothioneine prevents cystine lithiasis in the Slc7a9−/− mouse model of cystinuria

Redox Biology, 2023
The high recurrence rate of cystine lithiasis observed in cystinuria patients highlights the need for new therapeutic options to address this chronic disease.
Clara Mayayo-Vallverdú, Miguel López de Heredia, Esther Prat, Laura González, Meritxell Espino Guarch, Clara Vilches, Lourdes Muñoz, Miguel A. Asensi, Carmen Serra, Amadeu Llebaria, Mercedes Casado, Rafael Artuch, Gloria Garrabou, Pablo M. Garcia-Roves, Federico V. Pallardó, Virginia Nunes   +15 more
doaj   +1 more source

Metabolic diagnosis and medical prevention of calcium nephrolithiasis and its systemic manifestations: a consensus statement [PDF]

, 2016
Background: Recently published guidelines on the medical management of renal stone disease did not address relevant topics in the field of idiopathic calcium nephrolithiasis, which are important also for clinical research.
Bartoletti, R., Buchholz, N., Buchholz, N.N.-P. (Noor), Bushinsky, D., Bushinsky, D. (David), Capasso, G.B., Cicerello, E., Coe, F., Coe, F. (Fredric), Croppi, E. (Emanuele), Cupisti, A., Curhan, G.C., Curhan, G.C. (Gary C.), Desai, J., Fabris, A., Ferraro, P.M., Ferraro, P.M. (Pietro Manuel), Fuster, D., Fuster, D. (Daniel), Gambaro, G., Gambaro, G. (Giovanni), Goldfarb, D.S., Goldfarb, D.S. (David S.), Heilberg, I.P., Heilberg, I.P. (Ita Pfeferman), Hess, B., Hess, B. (Bernhard), Jaeger, P. (Ph), Kirkali, Z. (Ziya), Kok, D.J. (Dirk), Letavernier, E., Lieske, J., Lieske, J. (John), Lingeman, J., Lingeman, J. (James), Marangella, M., Marangella, M. (Martino), Mazzaferro, S., Milliner, D., Milliner, D. (Dawn), Moe, O., Moe, O. (Orson), Nouvenne, A., Preminger, G.M., Preminger, G.M. (Glen M.), Prie, D., Reis Santos, J., Reis Santos, J.M. (Jose’ Manuel), Rendina, D., Sakhaee, K. (Khashayar), Sarica, K., Sarica, K. (Kemal), Siener, R., Siener, R. (Roswitha), Soldati, L., Strazzullo, P., Strazzullo, P. (Pasquale), Tasca, A., Trinchieri, A., Vezzoli, G., Vitale, C., Williams, J.C., Williams, J.C. (James C.), Worcester, E., Worcester, E. (Elen), Wu, W.   +65 more
core   +3 more sources