Results 111 to 120 of about 3,609 (206)

Familial Cystinuria [PDF]

BMJ, 1953
openaire   +2 more sources

Renal survival in hereditary urolithiasis: a monocentric cohort study from a Tunisian nephrology department. [PDF]

Pan Afr Med J
Bettaieb A, Hajji M, Kaaroud H, Ben Hamida F, Goucha R, Mrad R, Gargah T, Chakroun M, Bouzid K, Abderrahim E.   +9 more
europepmc   +1 more source

Acquired cystinuria in a kidney transplant recipient. [PDF]

Clin Kidney J
Martin C, Kutchukian S, Ecotière L, Ducousso H, Thierry A, Knebelmann B, Bridoux F.   +6 more
europepmc   +1 more source

Understanding the pathogenesis of cystinuria

Cystinuria is an autosomal recessive disorder characterised by excessive urinary excretion of cystine, resulting in recurrent cystine stones. Cystine stones typically present in children and young adults.
Nirmal Prasad Bhatt (21286427)
core  

Fluoroscopy-free mini-PCNL using CT-ultrasound fusion guidance in a pediatric patient with recurrent cystine stones: A case report. [PDF]

Urol Case Rep
Piyawannarat S, Sirisopana K, Phengsalae Y, Sangkum P, Kongchareonsombat W, Ketsuwan C.   +5 more
europepmc   +1 more source

Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (b°+AT) of rBAT

, 1999
INTERNATIONAL CYSTINURIA CONSORTIUM, GASPARINI, PAOLO   +1 more
core  

Dietary salt and protein intake and urinary cystine excretion in patients with cystinuria. [PDF]

Clin Kidney J
Bermond F, Fabbrini L, Rivoli L, Spasiano A, Leporati M, Petrarulo M, Ricotti A, Borsotti L, Marangella M, Cosseddu D, Ferraro PM, Vitale C.   +11 more
europepmc   +1 more source

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

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

Cystinuria in children: diagnosis and treatment. [PDF]

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