There are many different genetic diseases called inborn errors of metabolism (IEM) which
result from defective enzymes in the metabolic pathway. As a result, these defects either …

Cellular purine nucleotides derive mainly from de novo synthesis or nucleic acid turnover
and, only marginally, from dietary intake. They are subjected to catabolism, eventually …

Sulfite intoxication is the hallmark of four ultrarare disorders that are caused by impaired
sulfite oxidase activity due to genetic defects in the synthesis of the molybdenum cofactor or …

Previous studies reported that sex and age could influence urine metabolomics, which
should be considered in biomarker discovery. As a consequence, for the baseline of urine …

Lesch–Nyhan disease (LND) is a rare X-linked recessive disease caused by pathogenic
mutations of the HPRT1 gene. The typical clinical manifestations include cerebral palsy …

Long-term peritoneal dialysis is often limited or interrupted due to the development and
progression of peritoneal fibrosis. Accumulating evidence suggests that epithelial …

摘要目的: 探讨输尿管软镜治疗小儿上尿路结石的疗效及对血清炎症因子的影响. 方法:
选择2013 年4 月至2016 年4 月我院收治的上尿路结石患儿60 例, 通过随机数表法分为观察组(n …

Background/aims Familial juvenile hereditary nephropathy (FJHN) is characterized by
hyperuricemia due to severely impaired urinary excretion of urate. Hereditary renal …

Background This study sought to evaluate the prognostic power of serum uric acid (UA) in
predicting adverse events of very old acute coronary syndrome (ACS) patients with diabetes …

Results There were 242 and 476 patients in groups DM and non-DM (NDM) and the follow-
up time after discharge was 40-120 months (median: 63 months; interquartile range: 51–74 …