Results 61 to 70 of about 6,550 (239)
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
doaj +1 more source
Differential diagnosis of (inherited) amino acid metabolism or transport disorders [PDF]
, 1992 __Abstract__ Disorders of amino acid metabolism or transport are most clearly expressed in urine. Nevertheless the interpretation of abnormalities in urinary amino acid excretion remains difficult. An increase or decrease of almost every amino acid in
Blom, W.A.M. (Wim) +1 more
core +2 more sources
Bases moleculars de la cistinúria [PDF]
, 2018 Els cDNA identificats actualment de transportadors d'aminoàcids en mamífers poden ser agrupats en quatre famílies. Una d'aquestes famílies la componen les proteïnes rBAT i la cadena pesada (hc) de l'antigen de superfície de membrana anomenat 4F2. Els RNA
Barceló, P. +14 more
core
Mechanisms of human kidney stone formation [PDF]
, 2014 The precise mechanisms of kidney stone formation and growth are not completely known, even though human stone disease appears to be one of the oldest diseases known to medicine.
Coe, Fredric L. +4 more
core +1 more source
The effect of selenium supplementation on cystine crystal volume in patients with cystinuria
BioMedicine, 2018 Background: Cystinuria as an autosomal recessive sickness is a relatively rare disease. Formation of cystine stones indicates cystinuria. Few studies are considered the cysteine crystal volume in management of cystinuria.
Mohammadi Mehrdad +6 more
doaj +1 more source
Mass Spectrometry-based in vitro Assay to Identify Drugs that Influence Cystine Solubility
Bio-Protocol, 2017 Cystinuria is a rare genetic disorder characterized by recurrent, painful kidney stones, primarily composed of cystine, the dimer of the amino acid cysteine (Sumorok and Goldfarb, 2013).
Neelanjan Bose +3 more
doaj +1 more source
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 +10 more
wiley +1 more source
مجله دانشکده پزشکی اصفهان, 2014 Background: Cystinuria, one of the first diagnosed inborn errors of metabolism, recognized by hyperexcretion of cystine, lysine, ornithine and arginine into the urine.
Leila Koulivand +4 more
doaj
Dipeptide Absorption in Cystinuria [PDF]
Clinical Science, 1970 Absorption of a dipeptide and its constituent amino-acids has been studied by a perfusion technique in a patient with cystinuria and in a normal subject. Though the cystinuric patient was unable to absorb the dibasic amino-acid lysine in its free form, the dipeptide glycyl-L-lysine was well absorbed.
David Perrett, C. D. Holdsworth, Hellier
openaire +5 more sources