Results 91 to 100 of about 2,812 (171)

Composite Phenotype: Recurrent Nephrolithiasis and Chronic Kidney Disease in an Adult with Biallelic <italic>SLC34A3</italic> and Monoallelic <italic>SLC3A1</italic> Pathogenic Variants - Who Is "The Culprit"?

Kidney Blood Press Res
Olarewaju BA, Sabrowsky S, Shurrab S, Moyer AM, Keddis MT, Osundiji MA.   +5 more
europepmc   +1 more source

Mechanisms involved in aminoacidurias: impacts of genetic and environmental factors. [PDF]

Curr Res Physiol
Ajayi JA, Ananias EN, Issa-Lawal M, Gambari AM, Aribatise AB, Ojulari LS, Alagbonsi AI.   +6 more
europepmc   +1 more source

"Pediatric Urinary Stone Disease: A 10-Year Single-Center Experience from Türkiye": Letter to Editor. [PDF]

Turk Arch Pediatr
Neamatshahi M, Keykhosravi A.
europepmc   +1 more source

Correction: 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, Bilgici MNC, Aydog O, Özkaya O, Özden E, Sarikaya S.   +7 more
europepmc   +1 more source

Five Novel Mutations in Cystinuria Genes SLC3A1 and SLC7A9

Balkan Journal of Medical Genetics, 2009
Popovska-Jankovic K, Tasic V, Bogdanovic R, Miljkovic P, Baskin E, Efremov G, Plaseska-Karanfilska D   +6 more
doaj   +1 more source

Beyond numbers: challenges in assessing myasthenia gravis prevalence in inflammatory bowel disease. [PDF]

Arq Neuropsiquiatr
Messina C.
europepmc   +1 more source

Cystinuria-Related Urinary Stone as the Cause of Repeated Urinary Tract Infections (UTIs) in a Child. [PDF]

Cureus
Chantzaras AP, Karageorgos S, Papakonstantinou A, Kyriopoulos C, Mitsos P.   +4 more
europepmc   +1 more source

Gene modification: Exploring the potential in treating kidney diseases. [PDF]

Pharmacol Res
Ekperikpe US, Zhao S, Daehn IS.
europepmc   +1 more source

Phenotypes and the Importance of Genetic Analysis in Adult Patients with Nephrolithiasis and/or Nephrocalcinosis: A Single-Center Experience. [PDF]

Genes (Basel)
Rusu EE, Sorohan BM, Pandele R, Popescu A, Bobeica R, Balanica S, Zilisteanu DS, Iordache A, Lungu A, Ismail G.   +9 more
europepmc   +1 more source

Urolithiasis in Children-Clinical Picture, Pathogenesis, and Diagnostic Approach. [PDF]

Biomolecules
Pięta J, Szyszka M, Lipiński P, Skrzypczyk P.   +3 more
europepmc   +1 more source