Minami R, Olek K, Wardenbach P
Humangenetik. 1975 Sep 10;29(2):145-9. doi: 10.1007/BF00430352.
During routine screening procedures for amino acid disorders by thin layer chromatography, performed in a children's psychiatric hospital, we detected 6 children who excreted excessive amounts of dibasic amino acids. The probands, their siblings and parents and 11 controls (29 subjects in all) were loaded with cystine. On the basis of the urinary excretion after the loading we distinguished normal subjects from cystinuric heterozygotes, which we further subdivided in heterozygotes type II and III by the corresponding serum response.
在一家儿童精神病医院通过薄层色谱法对氨基酸紊乱进行常规筛查过程中，我们检测到6名排泄过量二元氨基酸的儿童。先证者、他们的兄弟姐妹和父母以及11名对照者（共29名受试者）均摄入了胱氨酸。根据摄入后尿液排泄情况，我们将正常受试者与胱氨酸尿杂合子区分开来，并根据相应的血清反应将胱氨酸尿杂合子进一步细分为II型和III型杂合子。
