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. 1968 Dec;5(4):281–285. doi: 10.1136/jmg.5.4.281

Amino acid patterns in cystinuric families.

S Kelly, W Copeland
PMCID: PMC1468653  PMID: 5713639

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. ASATOOR A. M., LACEY B. W., LONDON D. R., MILNE M. D. Aminoacid metabolism in cystinuria. Clin Sci. 1962 Oct;23:285–304. [PubMed] [Google Scholar]
  2. COWEN D. E., DINES D. E., CHESSEN J., PROCTOR H. H. CYSTINURIA: COMBINED CLINICAL STAFF CONFERENCE AT THE NATIONAL INSTITUTES OF HEALTH. Ann Intern Med. 1965 Apr;62:796–822. [PubMed] [Google Scholar]
  3. Crawhall J. C., Scowen E. F., Thompson C. J., Watts R. W. The renal clearance of amino acids in cystinuria. J Clin Invest. 1967 Jul;46(7):1162–1171. doi: 10.1172/JCI105609. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. DENT C. E., ROSE G. A. Aminoacid metabolism in cystinuria. Q J Med. 1951 Jul;20(79):205–219. [PubMed] [Google Scholar]
  5. EFRON M. L., YOUNG D., MOSER H. W., MACCREADY R. A. A SIMPLE CHROMATOGRAPHIC SCREENING TEST FOR THE DETECTION OF DISORDERS OF AMINO ACID METABOLISM. A TECHNIC USING WHOLE BLOOD OR URINE COLLECTED ON FILTER PAPER. N Engl J Med. 1964 Jun 25;270:1378–1383. doi: 10.1056/NEJM196406252702602. [DOI] [PubMed] [Google Scholar]
  6. FRIMPTER G. W., HORWITH M., FURTH E., FELLOWS R. E., THOMPSON D. D. Inulin and endogenous amino acid renal clearances in cystinuria: evidence for tubular secretion. J Clin Invest. 1962 Feb;41:281–288. doi: 10.1172/JCI104481. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Foley T. H., London D. R. Cysteine metabolism in cystinuria. Clin Sci. 1965 Dec;29(3):549–554. [PubMed] [Google Scholar]
  8. HARRIS H., MITTWOCH U., ROBSON E. B., WARREN F. L. The pattern of amino-acid excretion in cystinuria. Ann Hum Genet. 1955 Feb;19(3):196–208. doi: 10.1111/j.1469-1809.1955.tb01344.x. [DOI] [PubMed] [Google Scholar]
  9. Kennedy C., Shih V. E., Rowland L. P. Homocystinuria: a report in two siblings. Pediatrics. 1965 Nov;36(5):736–741. [PubMed] [Google Scholar]
  10. MCCARTHY C. F., BORLAND J. L., Jr, LYNCH H. J., Jr, OWEN E. E., TYOR M. P. DEFECTIVE UPTAKE OF BASIC AMINO ACIDS AND L-CYSTINE BY INTESTINAL MUCOSA OF PATIENTS WITH CYSTINURIA. J Clin Invest. 1964 Aug;43:1518–1524. doi: 10.1172/JCI105028. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Milne M. D., Asatoor A. M., Edwards K. D., Loughridge L. W. The intestinal absorption defect in cystinuria. Gut. 1961 Dec;2(4):323–337. doi: 10.1136/gut.2.4.323. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. RYAN W. L., WELLS I. C. HOMOCITRULLINE AND HOMOARGININE SYNTHESIS FROM LYSINE. Science. 1964 May 29;144(3622):1122–1127. doi: 10.1126/science.144.3622.1122. [DOI] [PubMed] [Google Scholar]
  13. Rosenberg L. E. Cystinuria: genetic heterogeneity and allelism. Science. 1966 Dec 9;154(3754):1341–1343. doi: 10.1126/science.154.3754.1341. [DOI] [PubMed] [Google Scholar]
  14. Rosenberg L. E., Downing S., Durant J. L., Segal S. Cystinuria: biochemical evidence for three genetically distinct diseases. J Clin Invest. 1966 Mar;45(3):365–371. doi: 10.1172/JCI105351. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Rosenberg L. E., Durant J. L., Holland J. M. Intestinal absorption and renal extraction of cystine and cysteine in cystinuria. N Engl J Med. 1965 Dec 2;273(23):1239–1245. doi: 10.1056/NEJM196512022732303. [DOI] [PubMed] [Google Scholar]
  16. SCRIVER C. R., DAVIES E., CULLEN A. M. APPLICATION OF A SIMPLE MICROMETHOD TO THE SCREENING OF PLASMA FOR A VARIETY OF AMINOACIDOPATHIES. Lancet. 1964 Aug 1;2(7353):230–232. doi: 10.1016/s0140-6736(64)90183-7. [DOI] [PubMed] [Google Scholar]
  17. STEIN W. H., MOORE S. The free amino acids of human blood plasma. J Biol Chem. 1954 Dec;211(2):915–926. [PubMed] [Google Scholar]
  18. Spencer R. P., Brody K. R., Mautner H. G. Intestinal transport of cystine analogues. Nature. 1965 Jul 24;207(995):418–419. doi: 10.1038/207418a0. [DOI] [PubMed] [Google Scholar]
  19. THIER S., FOX M., SEGAL S., ROSENBERG L. E. CYSTINURIA: IN VITRO DEMONSTRATION OF AN INTESTINAL TRANSPORT DEFECT. Science. 1964 Jan 31;143(3605):482–484. doi: 10.1126/science.143.3605.482. [DOI] [PubMed] [Google Scholar]

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