Results 81 to 90 of about 8,821 (269)

Ureteroscopic lithotripsy for ureteral stones in children using holmium: yag laser energy: results of a multicentric survey [PDF]

, 2019
BACKGROUND: Holmium:YAG (Ho:YAG) laser lithotripsy has broadened the indications for ureteroscopic stone managements in adults, but few evidence are currently available in the pediatric population. OBJECTIVE: This article aimed to assess the outcome
Bagnara, V., Escolino, M., Esposito, C., Golebiewski, A., Masieri, L., Tokar, B.   +5 more
core   +1 more source

Mass Spectrometry-based in vitro Assay to Identify Drugs that Influence Cystine Solubility

Bio-Protocol, 2017
Cystinuria is a rare genetic disorder characterized by recurrent, painful kidney stones, primarily composed of cystine, the dimer of the amino acid cysteine (Sumorok and Goldfarb, 2013).
Neelanjan Bose, Tiffany Zee, Pankaj Kapahi, Marshall Stoller   +3 more
doaj   +1 more source

Stone dust in endourology: a systematic review of its definition, management, and clinical impact

BJU International, Volume 136, Issue 2, Page 185-197, August 2025.
Objective To evaluate and synthesise the existing literature on stone dust (DUST) in endourology, focusing on its definition, creation methods, and removal techniques. Methods A comprehensive electronic literature search was conducted using the PubMed/Medline, Web Of Science, and Embase databases to identify reports published until October 2024.
Stefano Moretto, Alberto Quarà, Federico Zorzi, Alejandra Bravo‐Balado, Aideen Madden, Johan Cabrera, Mariela Corrales, Luigi Candela, Steeve Doizi, Frederic Panthier, Olivier Traxer   +10 more
wiley   +1 more source

Differential diagnosis of (inherited) amino acid metabolism or transport disorders [PDF]

, 1992
__Abstract__ Disorders of amino acid metabolism or transport are most clearly expressed in urine. Nevertheless the interpretation of abnormalities in urinary amino acid excretion remains difficult. An increase or decrease of almost every amino acid in
Blom, W.A.M. (Wim), Huijmans, J.G.M. (Jan)   +1 more
core   +2 more sources

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, Shohani Amin, Khorami Hatef, Nouri Mahdavi Kia, IzadPanahi Mohammad hossein, Alizadeh Farshid, Azizi Mohammad   +6 more
doaj   +1 more source

CATs and HATs: the SLC7 family of amino acid transporters [PDF]

, 2018
The SLC7 family is divided into two subgroups, the cationic amino acid transporters (the CAT family, SLC7A1-4) and the glycoprotein-associated amino acid transporters (the gpaAT family, SLC7A5-11), also called light chains or catalytic chains of the ...
Closs, Ellen, Endou, Hitoshi, Kanai, Yoshikatsu, Palacin, Manuel, Verrey, François, Wagner, Carsten   +5 more
core  

Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian Peninsula [PDF]

, 2015
Acessível em: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375120/Homocystinuria due to cystathionine β-synthase deficiency or "classical homocystinuria" is a rare autosomal recessive condition resulting in altered sulfur metabolism with elevated ...
E Martins, FD Testai, G Sebastio, H Gan-Schreier, M Cozar, M Furujo, M Meier, M Nagao, ME Chamberlin, ME Chamberlin, ME Chamberlin, ML Couce, MM Rebollido-Fernandez, MS Rashed, PM Gallagher, R Banerjee, R Castro, R Urreitzi, R Urreizti, S Chadwick, S Stabler, S Tortorelli, SH Mudd, SH Mudd, SJ Moat, Y Chien   +25 more
core   +1 more source

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

The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat!

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Inborn errors of metabolism (IEMs) are rare genetic conditions with significant morbidity and mortality. Technological advances have increased therapeutic options, making it challenging to remain up to date. A centralized therapy knowledgebase is needed for early diagnosis and targeted treatment. This study aimed to identify all treatable IEMs
Bibiche den Hollander, Eva M. M. Hoytema van Konijnenburg, Brittany Hewitson, Jan C. van der Meijden, Berith M. Balfoort, Brad Winter, Annelieke R. Müller, Wyeth W. Wasserman, Carlos R. Ferreira, Clara D. van Karnebeek   +9 more
wiley   +1 more source

Rare diseases leading to childhood Glaucoma. epidemiology, pathophysiogenesis, and management [PDF]

, 2015
Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of
Abdolrahimzadeh, Solmaz, CONTESTABILE, Maria Teresa, FAMELI, VALERIA, Mollo, Roberto, Perdicchi, Andrea, RECUPERO, Santi Maria   +5 more
core   +3 more sources