Results 31 to 40 of about 6,666 (226)
Nephrotic Syndrome Induced by Tiopronin in a Male Patient with Cystinuria. [PDF]
Balkan J Med GenetCystinuria is a rare, lifelong, autosomal recessive disorder characterized by high urine cystine excretion, leading to chronic and recurrent kidney stone formation. This inherited metabolic disorder occurs due to defective cystine, lysine, ornithine, and
Karanfilovski V +9 more
europepmc +2 more sources
Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine [PDF]
BMC Genomics, 2017 Background Cystinuria is an inherited disease that results in the formation of cystine stones in the kidney, which can have serious health complications.
Henry J. Martell +5 more
openalex +3 more sources
Gene Dosage Sensitivity and Human Genetic Diseases. [PDF]
J Inherit Metab DisABSTRACT Here we review the historical background and contemporary insights into genetic dominance, focusing on haploinsufficiency (HI), that is, when the function of only one allele of a gene is not enough to ensure a normal phenotype in a diploid organism.
Veitia RA, Zschocke J, Birchler JA.
europepmc +2 more sources
Renal Replacement Therapy, 2019 Background Cystinuria is a rare autosomal recessive metabolic disorder that affects renal and intestinal cystine transport. Cystine stones are found in only 1–2% of all stone formers.
Masatoshi Matsunami +7 more
doaj +1 more source
Hypotonia–cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression
Annals of Clinical and Translational Neurology, 2021 Two siblings presented similarly with congenital hypotonia, lactic acidosis, and failure to thrive. Later in childhood, the brother developed cystinuria and nephrolithiasis whereas the older sister suffered from cystinuria and chronic neurobehavioral ...
Atif Towheed +8 more
doaj +1 more source
BMC Nephrology, 2018 Background Cystinuria is caused by the defective renal reabsorption of cystine and dibasic amino acids, and results in cystine stone formation. So far, mutations in two genes have been identified as causative.
Kathrin Olschok +4 more
doaj +1 more source
Société Internationale d’Urologie Journal, 2023 ObjectiveTo describe the genetic mutations and phenotype in the first African series of patients with cystinuria. MethodsPatients with cystinuria were recruited from a specialist metabolic renal stone clinic in Cape Town, South Africa, for DNA ...
Lisa-Ann Kaestner +4 more
doaj +1 more source
‘Cystinuria Support’ – a new dedicated forum for patients with the rare disease cystinuria
European Urology Open Science, 2020 Matthew Bultitude, Kay Thomas
openalex +3 more sources
Potential diagnostic assay for cystinuria by capillary electrophoresis coupled to mass spectrometry [PDF]
, 2013 Cystinuria is an autosomal recessive genetic disorder characterized by abnormal intestinal and renal tubular transport of L-cystine as well as of L-lysine, L-arginine and L-ornithine.
Assunção, Nilson Antonio +3 more
core +2 more sources
Therapy modifies cystine kidney stones at the macroscopic scale. Do such alterations exist at the mesoscopic and nanometre scale? [PDF]
, 2014 International audienceWith an incidence of 1:7000 births, cystinuria, the most frequent cause of stone formation among genetic diseases, represents a major medical problem.
Dominique Bazin +5 more
core +3 more sources