Skip to main content

. 1960 Jun;35(181):240–249. doi: 10.1136/adc.35.181.240

The Cerebro-ocular-renal Dystrophies: a new variant

R A McCance, W J Matheson, G A Gresham, J R Elkinton

PMCID: PMC2012629 PMID: 21032365

240

Images in this article

Fig. 3a
on p.245

Fig. 3b
on p.245

Fig. 4
on p.245

Fig. 1
on p.243

Fig. 2
on p.244

Fig. 5
on p.246

Fig. 6
on p.246

Selected References

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

COOKE R. E., KLEEMAN C. R. Distal tubular dysfunction with renal calcification. Yale J Biol Med. 1950 Dec;23(3):199–206. [PMC free article] [PubMed] [Google Scholar]
DAVIES B. M. A., YUDKIN J. Studies in biochemical adaptation; the origin or urinary ammonia as indicated by the effect of chronic acidosis and alkalosis on some renal enzymes in the rat. Biochem J. 1952 Nov;52(3):407–412. doi: 10.1042/bj0520407. [DOI] [PMC free article] [PubMed] [Google Scholar]
DEBRE R., ROYER P., LESTRADET H. Les insuffisances congénitales du tubule rénal chez l'enfant. Sem Hop. 1956 Jan 22;32(5/1):235–254. [PubMed] [Google Scholar]
DEBRE R., ROYER P., LESTRADET H., STRAUB W. L'insuffisance tubulaire congénitale avec arriération mentale, cataracte et glaucome (syndrome de Lowe). Arch Fr Pediatr. 1955;12(4):337–348. [PubMed] [Google Scholar]
DOXIADIS S. A. Idiopathic renal acidosis in infancy. Arch Dis Child. 1952 Oct;27(135):409–427. doi: 10.1136/adc.27.135.409. [DOI] [PMC free article] [PubMed] [Google Scholar]
FERGUSON-SMITH M. A. Chromation-positive Klinefelter's syndrome (primary microrchidism) in a mental-deficiency hospital. Lancet. 1958 May 3;1(7027):928–931. doi: 10.1016/s0140-6736(58)91684-2. [DOI] [PubMed] [Google Scholar]
FOSS G. L., PERRY C. B., WOOD F. J. Renal tubular acidosis. Q J Med. 1956 Apr;25(98):185–199. [PubMed] [Google Scholar]
GABRIELSEN L. H. Idiopathic renal acidosis. Acta Paediatr. 1954 Mar;43(2):198–204. doi: 10.1111/j.1651-2227.1954.tb04017.x. [DOI] [PubMed] [Google Scholar]
GOLDBLOOM R. B., FRASER F. C., WAUGH D., ARONOVITCH M., WIGLESWORTH F. W. Hereditary renal disease associated with nerve deafness and ocular lesions. Pediatrics. 1957 Aug;20(2):241–252. [PubMed] [Google Scholar]
JACKSON W. P., LINDER G. C. Innate functional defects of the renal tubules, with particular reference to the Fanconi syndrome; cases with retinitis pigmentosa. Q J Med. 1953 Apr;22(86):133–156. [PubMed] [Google Scholar]
JONXIS J. H. Aminoacidurie. Ergeb Inn Med Kinderheilkd. 1957;8:169–198. [PubMed] [Google Scholar]
LOWE C. U., SMITH R. T. Pyruvic aciduria in a patient with organic aciduria. Helv Paediatr Acta. 1955 May;10(1-2):220–223. [PubMed] [Google Scholar]
LOWE C. U., TERREY M., MacLACHLAN E. A. Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity. AMA Am J Dis Child. 1952 Feb;83(2):164–184. doi: 10.1001/archpedi.1952.02040060030004. [DOI] [PubMed] [Google Scholar]
MUDGE G. H. Clinical patterns of tubular dysfunction. Am J Med. 1958 May;24(5):785–804. doi: 10.1016/0002-9343(58)90381-4. [DOI] [PubMed] [Google Scholar]
PIEL C. F. Diseases of the renal tubules in childhood. Pediatrics. 1957 Aug;20(2):337–357. [PubMed] [Google Scholar]
RADDE I. C., McCANCE R. A. Glutaminase activity of the foetal membranes and kidneys of pigs. Nature. 1959 Jan 10;183(4654):115–116. doi: 10.1038/183115a0. [DOI] [PubMed] [Google Scholar]
RECTOR F. C., Jr, SELDIN D. W., COPENHAVER J. H. The mechanism of ammonia excretion during ammonium chloride acidosis. J Clin Invest. 1955 Jan;34(1):20–26. doi: 10.1172/JCI103058. [DOI] [PMC free article] [PubMed] [Google Scholar]
RENDLE-SHORT J. Idiopathic renal acidosis in twins; alkalosis resulting from overdosage of a citrate mixture. Arch Dis Child. 1953 Feb;28(137):55–56. doi: 10.1136/adc.28.137.55. [DOI] [PMC free article] [PubMed] [Google Scholar]
SCHREINER G. E., SMITH L. H., Jr, KYLE L. H. Renal hyperchloremic acidosis; familial occurrence of nephrocalcinosis with hyperchloremia and low serum bicarbonate. Am J Med. 1953 Jul;15(1):122–129. doi: 10.1016/0002-9343(53)90060-6. [DOI] [PubMed] [Google Scholar]
SCHWARTZ W. B., HALL P. W., 3rd, HAYS R. M., RELMAN A. S. On the mechanism of acidosis in chronic renal disease. J Clin Invest. 1959 Jan 1;38(1 Pt 1):39–52. doi: 10.1172/JCI103794. [DOI] [PMC free article] [PubMed] [Google Scholar]
ULE G. Kleinhirnrindenatrophie vom Körnertyp. Dtsch Z Nervenheilkd. 1952 Aug;168(3-4):195–226. [PubMed] [Google Scholar]
Van Slyke D. D., Linder G. C., Hiller A., Leiter L., McIntosh J. F. THE EXCRETION OF AMMONIA AND TITRATABLE ACID IN NEPHRITIS. J Clin Invest. 1926 Feb;2(3):255–288. doi: 10.1172/JCI100045. [DOI] [PMC free article] [PubMed] [Google Scholar]
WRONG O., DAVIES H. E. The excretion of acid in renal disease. Q J Med. 1959 Apr;28(110):259–313. [PubMed] [Google Scholar]

ACTIONS

RESOURCES