Results 41 to 50 of about 6,666 (226)

Dietary treatment of urinary risk factors for renal stone formation. A review of CLU Working Group [PDF]

open access: yes, 2015
OBJECTIVE: Diet interventions may reduce the risk of urinary stone formation and its recurrence, but there is no conclusive consensus in the literature regarding the effectiveness of dietary interventions and recommendations about specific diets for ...
Bianchi, G   +31 more
core   +2 more sources

Risks Associated with Drug Treatments for Kidney Stones [PDF]

open access: yes, 2015
Introduction: Renal stones are one of the most painful medical conditions patients experience. For many they are also a recurrent problem. Fortunately, there are a number of drug therapies available to treat symptoms as well as prevent future stone ...
Borofsky, Michael S.   +2 more
core   +1 more source

Diversity of Phenotype and Genetic Etiology of 23 Cystinuria Saudi Patients: A Retrospective Study

open access: yesFrontiers in Pediatrics, 2020
Background: Cystinuria is an inborn error of metabolism that manifests with renal stones due to defective renal epithelial cell transport of cystine which resulted from pathogenic variants in the SLC3A1 and/or SLC7A9 genes. Among nephrolithiasis diseases,
Malak Alghamdi   +9 more
doaj   +1 more source

Primary hyperparathyroidism can generate recurrent pancreatitis and secondary diabetes mellitus – A case report [PDF]

open access: yes, 2019
Introduction. Acute or recurrent pancreatitis may be a complication of primary hyperparathyroidism and patients with previous episodes of pancreatitis may develop secondary diabetes mellitus. Case report.
Dănciulescu Miulescu, Rucsandra Elena   +4 more
core   +2 more sources

Infrared vibrational spectroscopy: a rapid and novel diagnostic and monitoring tool for cystinuria [PDF]

open access: yes, 2016
Cystinuria is the commonest inherited cause of nephrolithiasis (~1% in adults; ~6% in children) and is the result of impaired cystine reabsorption in the renal proximal tubule. Cystine is poorly soluble in urine with a solubility of ~1 mM and can readily
A Guerra   +35 more
core   +2 more sources

CYSTINURIA

open access: hybridJournal of Biological Chemistry, 1937
Erwin Brand   +3 more
openaire   +2 more sources

A Novel Variant in Iranian Patient with Cystinuria: A Case Report

open access: yesIranian Journal of Public Health, 2021
Cystinuria is an autosomal recessive disorder in which the renal reabsorption of cystine, arginine, lysine and ornithine are disturbed. The two genes, the pathogenic forms of which are responsible for the disorder, are SLC7A9 and SLC3A1.
Ali Mardi   +4 more
doaj   +1 more source

Alkyl substituted cucurbit[6]uril assisted competitive fluorescence recognition of lysine and methionine in aqueous solution [PDF]

open access: yes, 2017
The use of competitive ratiometric fluorescence indicator displacement chemosensors derived from two alkyl substituted cucurbit[6]uril-based host-guest complexes is reported.
Bai, Qinghong   +8 more
core   +1 more source

Extracorporeal Shockwave Lithotripsy for Cystine Stones in Children: An Observational, Retrospective, Single-Center Analysis

open access: yesFrontiers in Pediatrics, 2021
Purpose: Cystinuria is a genetic disorder characterized by a defective reabsorption of cystine and dibasic amino acids leading to development of urinary tract calculi from childhood onward. Cystine lithiasis is known to be resistant to fragmentation. The
Nicolas Vinit   +15 more
doaj   +1 more source

Inborn errors of metabolism: a clinical overview [PDF]

open access: yes, 1999
CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins.
Martins, Ana Maria
core   +4 more sources

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