Skip to main content
NCBI home page
Archives of Disease in Childhood logoLink to Archives of Disease in Childhood
. 1968 Apr;43(228):211–216. doi: 10.1136/adc.43.228.211

Sibs with mental and physical retardation and trichorrhexis nodosa with abnormal amino acid composition of the hair.

R J Pollitt, F A Jenner, M Davies
PMCID: PMC2019837  PMID: 5645693

Full text

PDF
211

Images in this article

212Fig. 1
on p.212
212Fig. 2
on p.212
213Fig. 3
on p.213

Selected References

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

  1. ALLAN J. D., CUSWORTH D. C., DENT C. E., WILSON V. K. A disease, probably hereditary characterised by severe mental deficiency and a constant gross abnormality of aminoacid metabolism. Lancet. 1958 Jan 25;1(7013):182–187. doi: 10.1016/s0140-6736(58)90666-4. [DOI] [PubMed] [Google Scholar]
  2. Aguilar M. J., Chadwick D. L., Okuyama K., Kamoshita S. Kinky hair disease. I. Clinical and pathological features. J Neuropathol Exp Neurol. 1966 Oct;25(4):507–522. doi: 10.1097/00005072-196610000-00001. [DOI] [PubMed] [Google Scholar]
  3. Bray P. F. Sex-linked neurodegenerative disease associated with monilethrix. Pediatrics. 1965 Sep;36(3):417–420. [PubMed] [Google Scholar]
  4. CORDANO A., BAERTL J. M., GRAHAM G. G. COPPER DEFICIENCY IN INFANCY. Pediatrics. 1964 Sep;34:324–336. [PubMed] [Google Scholar]
  5. Chernosky M. E., Owens D. W. Trichorrhexis nodosa. Clinical and investigative studies. Arch Dermatol. 1966 Nov;94(5):577–585. doi: 10.1001/archderm.94.5.577. [DOI] [PubMed] [Google Scholar]
  6. Crewther W. G., Fraser R. D., Lennox F. G., Lindley H. The chemistry of keratins. Adv Protein Chem. 1965;20:191–346. doi: 10.1016/s0065-3233(08)60390-3. [DOI] [PubMed] [Google Scholar]
  7. ELLMAN G. L. Tissue sulfhydryl groups. Arch Biochem Biophys. 1959 May;82(1):70–77. doi: 10.1016/0003-9861(59)90090-6. [DOI] [PubMed] [Google Scholar]
  8. GORDON H. H., NITOWSKY H. M., CORNBLATH M. Studies of tocopherol deficiency in infants and children. I. Hemolysis of erythrocytes in hydrogen peroxide. AMA Am J Dis Child. 1955 Dec;90(6):669–681. doi: 10.1001/archpedi.1955.04030010671002. [DOI] [PubMed] [Google Scholar]
  9. Gillespie J. M., Inglis A. S. A comparative study of high-sulphur proteins from alpha-keratins. Comp Biochem Physiol. 1965 Jun;15(2):175–185. doi: 10.1016/0010-406x(65)90345-2. [DOI] [PubMed] [Google Scholar]
  10. Gillespie J. M., Reis P. J. The dietary-regulated biosynthesis of high-sulphur wool proteins. Biochem J. 1966 Mar;98(3):669–677. doi: 10.1042/bj0980669. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. LEVIN B., MACKAY H. M., OBERHOLZER V. G. Argininosuccinic aciduria, an inborn error of amino acid metabolism. Arch Dis Child. 1961 Dec;36:622–632. doi: 10.1136/adc.36.190.622. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Levin B. Arginosuccine aciduria. Am J Dis Child. 1967 Jan;113(1):162–165. [PubMed] [Google Scholar]
  13. MENKES J. H., ALTER M., STEIGLEDER G. K., WEAKLEY D. R., SUNG J. H. A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration. Pediatrics. 1962 May;29:764–779. [PubMed] [Google Scholar]
  14. O'Brien J. S., Sampson E. L. Kinky hair disease. II. Biochemical studies. J Neuropathol Exp Neurol. 1966 Oct;25(4):523–530. doi: 10.1097/00005072-196610000-00002. [DOI] [PubMed] [Google Scholar]
  15. Ratner S., Kunkemueller M. Separation and properties of argininosuccinate and its two anhydrides and their detection in biological materials. Biochemistry. 1966 Jun;5(6):1821–1832. doi: 10.1021/bi00870a007. [DOI] [PubMed] [Google Scholar]
  16. Shelly W. B., Rawnsley H. M. Aminogenic alopecia. Loss of hair associated with argininosuccinic aciduria. Lancet. 1965 Dec 25;2(7426):1327–1328. doi: 10.1016/s0140-6736(65)92345-7. [DOI] [PubMed] [Google Scholar]
  17. VON ARX, NEHER R. EINE MULTIDIMENSIONALE TECHNIK ZUR CHROMATOGRAPHISCHEN IDENTIFIZIERUNG VON AMINOSAEUREN. J Chromatogr. 1963 Nov;12:329–341. doi: 10.1016/s0021-9673(01)83693-1. [DOI] [PubMed] [Google Scholar]
  18. WESTALL R. G. Argininosuccinic aciduria: identification and reactions of the abnormal metabolite in a newly described form of mental disease, with some preliminary metabolic studies. Biochem J. 1960 Oct;77:135–144. doi: 10.1042/bj0770135. [DOI] [PMC free article] [PubMed] [Google Scholar]
  19. YOSHIDA T., TADA K., MIZUNO T., WADA Y., AKABANE J., OGASAWARA J., MINAGAWA A., MORIKAWA T., OKAMURA T. A SEX-LINKED DISORDER WITH MENTAL AND PHYSICAL RETARDATION CHARACTERIZED BY CEREBROCORTICAL ATROPHY AND INCREASE OF GLUTAMIC ACID IN THE CEREBROSPINAL FLUID. Tohoku J Exp Med. 1964 Aug 25;83:261–269. doi: 10.1620/tjem.83.261. [DOI] [PubMed] [Google Scholar]

Articles from Archives of Disease in Childhood are provided here courtesy of BMJ Publishing Group

RESOURCES