Results 71 to 80 of about 3,609 (206)

α-Lipoic acid treatment prevents cystine urolithiasis in a mouse model of cystinuria [PDF]

, 2017
Cystinuria is an incompletely dominant disorder characterized by defective urinary cystine reabsorption that results in the formation of cystine-based urinary stones.
Pankaj Kapahi, Beck, Jennifer N., Tiffany Zee, Jarcy Zee, Stoller, Marshall L, Killilea, David W, Min Yang, Roy R Gerona, Marshall L Stoller, Gerona, Roy R., Jennifer N Beck, Zee, Jarcy, Monique N O'Leary, Damodar, Sruthi, Arvind Ramanathan, David Hall, Stoller, Marshall L., Parihar, Jaspreet, David W Killilea, O'Leary, Monique N, Chi, Thomas, Zee, Tiffany, Kapahi, Pankaj, Beck, Jennifer N, Jay Tischfield, O'Leary, Monique N., Sahota, Amrik, Ramanathan, Arvind, Amrik Sahota, Kahn, Arnold, Tischfield, Jay, Jaspreet Parihar, Arnold Kahn, Neelanjan Bose, Thomas Chi, See Yang, Sruthi Damodar, Yang, Min, Yang, See, Gerona, Roy R, Hall, David, Bose, Neelanjan, Killilea, David W.   +42 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

Mutation analysis of SLC7A9 in cystinuria patients in Sweden

, 2003
Cystinuria is an autosomal recessive disorder characterized by increased urinary excretion of cystine and dibasic amino acids, which cause recurrent stone formation in affected individuals.
Denneberg, Torsten,, Molbæk, Annette,, Molbaek, A, Harnevik, Lotta,, Harnevik, L, Söderkvist, Peter,, Fjellstedt, Erik, Soderkvist, P, Lund University., Denneberg, T, Fjellstedt, Erik,   +10 more
core   +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

Evaluating the efficacy of triple therapy incorporating low-dose D-penicillamine in pediatric patients with cystinuria: A case series analysis [PDF]

Journal of Shahrekord University of Medical Sciences
Cystinuria is a hereditary disorder characterized by recurrent kidney stone formation, which poses significant challenges to affected individuals and their families.
Saeed Mohajeri, Aliasghar Rabei, Alizamen Salehifard Jouneghani   +2 more
doaj   +1 more source

Molecular genetic studies on cystinuria

, 2007
Cystinuria is defined as an inherited disorder characterized by increased urinary excretion of cystine and the dibasic amino acids arginine, lysine and ornithine.
Harnevik, Lotta
core  

Type I cystinuria and its genetic basis in a population of Turkish school children

, 2007
Objectives: Cystinuria is a common inherited disorder characterized by an abnormal urinary excretion of cystine and dibasic amino acids resulting in nephrolithiasis.
Ozgur, Arzu, Bardakci, Fevzi, Tanzer, Fatos   +2 more
core   +1 more source

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

Cystinuria [PDF]

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