@article{oai:nagoya.repo.nii.ac.jp:00015274, author = {KATO, TOMOAKI and SUGIURA, JUNICHI}, issue = {2-4}, journal = {Nagoya Journal of Medical Science}, month = {Mar}, note = {The urinary amino acid patterns in parents of four cystine stone formers were investigated in order to determine the genetic types of the cystinuric families. The concentrations of urinary cystine, lysine, arginine and ornithine in the subjects were compared with those in heterozygotes of cystinuria reported by Harris and Rosenberg. All of the subjects except one who excreted the amino acids in the range between normal individuals and incompletely recessive carriers showed the characteristics of incompletely recessive heterozygotes defined by Harris. The urinary amino acid values of the subjects lay with a wide overlap in the extent between type I and type III heterozygotes, or type III and type II heterozygotes defined by Rosenberg. One individual excreted the compounds in a more extensive range which included all of the three groups of heterozygotes.}, pages = {71--78}, title = {Urinary Amino Acid Patterns in Cystinuric Families}, volume = {36}, year = {1974} }