cystinuria

n.

胱氨酸尿，胱酸尿症；

1. We reported an infant presented as recurrent abdominal pain and positive urine culture.Subsequent work up revealed the diagnosis of Type A cystinuria.
   我们报导一例婴儿，其表现为反覆腹痛和尿培养阳性，最终诊断是甲型胱氨酸尿症。

Effect of Penicillamine on Cystinuria
Cystinuria: biochemical evidence for three genetically distinct diseases.
Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine.
Medical treatment of cystinuria: critical reappraisal of long-term results
Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT.
[Medical treatment of cystinuria: evaluation of long-term results in 30 patients]
Luminal Heterodimeric Amino Acid Transporter Defective in Cystinuria
Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification.
Identification of an amino acid transporter associated with the cystinuria-related type II membrane glycoprotein
Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria.