Results 101 to 110 of about 6,097 (205)

A Case of Cystinuria With Compound Heterozygous Mutations Both in <i>SLC3A1</i> and <i>SLC7A9</i> Genes. [PDF]

Electrolyte Blood Press
Suh SH, Song SH, Choi HS, Kim CS, Bae EH, Kim SW, Ma SK.   +6 more
europepmc   +1 more source

Declaration: Novel SLC3A1 mutation in a cystinuria patient with xanthine stones: a case report. [PDF]

BMC Urol, 2023
Bai P, Zhang W, Lai L, Huang H, Qin J, Duan B, Wang H, Chen Y, Jia Y, Xing J, Wang T, Chen B.   +11 more
europepmc   +1 more source

Deletion of PREPL, a Gene Encoding a Putative Serine Oligopeptidase, in Patients with Hypotonia-Cystinuria Syndrome [PDF]

, 2005
Jaak Jaeken, Kevin Martens, Inge François, François Eyskens, C Lecointre, Rita Derua, Sandra Meulemans, Jerry W. Slootstra, Etienne Waelkens, Francis de Zegher, John W.M. Creemers, Gert Matthijs   +11 more
openalex   +1 more source

Erythropoietic protoporphyria, heterozygous cystinuria, and reduced peptidase A activity in a patient with 46,XX/46,XX,18q--mosaicism.

, 1978
Erik Naylor, William H. Murphey, E I Domoszlai, R Guthrie   +3 more
openalex   +1 more source

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, Ceyhan Bilgici MN, Aydog O, Özkaya O, Özdem E, Sarikaya S.   +7 more
europepmc   +1 more source

Efficient Screening of the Cystinuria-Related C663T Slc3a1 Nonsense Mutation in Newfoundland Dogs by Denaturing High-Performance Liquid Chromatography [PDF]

, 2006
Augusto de Matos, Cláudia Mascarenhas, Paula Magalhães, Jorge P. Pinto   +3 more
openalex   +1 more source

Cystinuria in children: diagnosis and treatment. [PDF]

World J Urol
Gökçe Mİ, Karaburun MC.
europepmc   +1 more source

Enhancing Renal Stone Management: Tip-Flexible Ureteral Access Sheath in Cystine Stone Surgery. [PDF]

Am J Case Rep
Xu T, Kwan KJS, Xiong L.
europepmc   +1 more source

A retrospective study on epidemiology and management of canine cystine uroliths in one part of Norway from 2015 to 2020. [PDF]

Acta Vet Scand, 2023
Naeverdal TV, Midtgård JE, Llarena AK, Ziener ML.   +3 more
europepmc   +1 more source

Sulfur amino acid metabolism in cystinuria: A biochemical and clinical study of patients

, 1990
Johan Mårtensson, Torsten Denneberg, Åke Lindell, Ola Textorius   +3 more
openalex   +1 more source