Skip to main content
PMC home page
Archives of Disease in Childhood logoLink to Archives of Disease in Childhood
. 1960 Dec;35(184):521–528. doi: 10.1136/adc.35.184.521

The Genetic Mechanism of Galactosaemia*

Kenneth Hugh-Jones, Alvah L Newcomb, David Yi-Yung Hsia
PMCID: PMC2012648  PMID: 13716617

Full text

PDF
521

Selected References

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

  1. ANDERSON E. P., KALCKAR H. M., KURAHASHI K., ISSELBACHER K. J. A specific enzymatic assay for the diagnosis of congenital galactosemia. I. The consumption test. J Lab Clin Med. 1957 Sep;50(3):469–477. [PubMed] [Google Scholar]
  2. ARTHURTON M. W., MEADE B. W. Congenital galactosaemia; report of a case. Br Med J. 1954 Sep 11;2(4888):618–620. doi: 10.1136/bmj.2.4888.618. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. BAIN H. W., BOWDEN D. H., CHUTE A. L., JACKSON S. H., SASS-KORTSAK A., WALKER N. F. Galactosaemia. Can Med Assoc J. 1957 Feb 15;76(4):278–285. [PMC free article] [PubMed] [Google Scholar]
  4. BENNETT C. E. Congenital galactosemia. U S Armed Forces Med J. 1958 Jan;9(1):112–119. [PubMed] [Google Scholar]
  5. BICKEL H., THURSBY-PELHAM D. C. Hyperamino-aciduria in Lignac-Fanconi disease, in galactosaemia and in an obscure syndrome. Arch Dis Child. 1954 Jun;29(145):224–231. doi: 10.1136/adc.29.145.224. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. BIRDSONG M., WOOD J. B. Galactosemia. Va Med Mon (1918) 1953 Jun;80(6):327–329. [PubMed] [Google Scholar]
  7. BRAY P. T., ISAAC R. J., WATKINS A. G. Galactosaemia. Arch Dis Child. 1952 Aug;27(134):341–347. doi: 10.1136/adc.27.134.341. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Bretthauer R. K., Hansen R. G., Donnell G., Bergren W. R. A PROCEDURE FOR DETECTING CARRIERS OF GALACTOSEMIA. Proc Natl Acad Sci U S A. 1959 Mar;45(3):328–331. doi: 10.1073/pnas.45.3.328. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. CLAY P. R., POTTER C. T. A case of galactosaemia with special reference to mental development. Arch Dis Child. 1955 Apr;30(150):147–149. doi: 10.1136/adc.30.150.147. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. CLINICOPATHOLOGICAL reports; from the case records of the Medical College of Virginia and the University of Virginia hospitals. Va Med Mon (1918) 1951 Jul;78(7):368–375. [PubMed] [Google Scholar]
  11. COX P. J. Galactosaemia. Br Med J. 1954 Sep 11;2(4888):613–618. doi: 10.1136/bmj.2.4888.613. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. DE HAAS P. K. Familiaire leververvetting met galactosaemie. Maandschr Kindergeneeskd. 1951 Oct;19(8-9):304–309. [PubMed] [Google Scholar]
  13. DONNELL G. N., LANN S. H. Galactosemia. Report of four cases. Pediatrics. 1951 Apr;7(4):503–515. [PubMed] [Google Scholar]
  14. DURAND P., SEMACH F. Formes tardives, atténuées de galactosémie chez deux frères; interprétation clinique et classement génétique de la maladie. Arch Fr Pediatr. 1955;12(9):958–971. [PubMed] [Google Scholar]
  15. DuSHANE J. W., HARTMAN E. E. Galactosemia in infancy report of a case with observation for 24 months. Pediatrics. 1951 May;7(5):679–683. [PubMed] [Google Scholar]
  16. EDMONDS A. M., HENNIGAR G. R., CROOKS R. Galactosemia; report of case with autopsy. Pediatrics. 1952 Jul;10(1):40–47. [PubMed] [Google Scholar]
  17. ELLENBURG L. L., PETERSON J. C. Chronic galactosemia. Am Pract Dig Treat. 1951 Jul;2(7):602–608. [PubMed] [Google Scholar]
  18. ENNS J. H. Human galactosemia cataract; report of a case. Am J Ophthalmol. 1951 Sep;34(9):1268–1270. doi: 10.1016/0002-9394(51)91861-2. [DOI] [PubMed] [Google Scholar]
  19. FALLS H. F., LOWREY G. H., ANDERSON W. C. Galactosemia cataract; report of a case. Am J Ophthalmol. 1951 Sep;34(9):1271–1274. [PubMed] [Google Scholar]
  20. FOX E. G., FYFE W. M., MOLLISON A. W. Galactose diabetes. Br Med J. 1954 Jan 30;1(4856):245–246. doi: 10.1136/bmj.1.4856.245. [DOI] [PMC free article] [PubMed] [Google Scholar]
  21. GILLOT F., SCHAEFER J. C., DALAUT J. C. Premiere observation algérienne de galactosémie congénitale. Arch Fr Pediatr. 1957;14(7):724–732. [PubMed] [Google Scholar]
  22. GOLBERG L., HOLZEL A., KOMROWER G. M., SCHWARZ V. A clinical and biochemical study of galactosaemia; a possible explanation of the nature of the biochemical lesion. Arch Dis Child. 1956 Aug;31(158):254–264. doi: 10.1136/adc.31.158.254. [DOI] [PMC free article] [PubMed] [Google Scholar]
  23. HAAS L., NEWMAN C. Galactosaemia presenting with gangrene of the right foot. Proc R Soc Med. 1955 May;48(5):336–336. [PubMed] [Google Scholar]
  24. HARTMANN A. F., GRUNWALDT E., JAMES D. H., Jr Blood galactose in infants and children. J Pediatr. 1953 Jul;43(1):1–8. doi: 10.1016/s0022-3476(53)80080-6. [DOI] [PubMed] [Google Scholar]
  25. HARTMANN A. F., McCOY E. E., SWARM P. A., NAKASATO D. I. Further observations on the metabolism of galactose in infants and children. J Pediatr. 1954 May;44(5):499–507. doi: 10.1016/s0022-3476(54)80335-0. [DOI] [PubMed] [Google Scholar]
  26. HOLZEL A., KOMROWER G. M. A study of the genetics of galactosaemia. Arch Dis Child. 1955 Apr;30(150):155–159. doi: 10.1136/adc.30.150.155. [DOI] [PMC free article] [PubMed] [Google Scholar]
  27. HSIA D. Y., HUANG I., DRISCOLL S. G. The heterozygous carrier in galactosaemia. Nature. 1958 Nov 15;182(4646):1389–1390. doi: 10.1038/1821389a0. [DOI] [PubMed] [Google Scholar]
  28. HUANG I., HUGH-JONES K., HSIA D. Y. Studies on the heterozygous carrier in galactosemia. J Lab Clin Med. 1959 Oct;54:585–592. [PubMed] [Google Scholar]
  29. HUDSON F. P., IRELAND J. T., OCKENDEN B. G., WHITE-JONES R. H. Diagnosis and treatment of galactosaemia. Br Med J. 1954 Jan 30;1(4856):242–245. doi: 10.1136/bmj.1.4856.242. [DOI] [PMC free article] [PubMed] [Google Scholar]
  30. ISSELBACHER K. J., ANDERSON E. P., KURAHASHI K., KALCKAR H. M. Congenital galactosemia, a single enzymatic block in galactose metabolism. Science. 1956 Apr 13;123(3198):635–636. doi: 10.1126/science.123.3198.635. [DOI] [PubMed] [Google Scholar]
  31. JEUNE, CHARRAT A., LOAEC Y. Un cas de galactosémie du nourrisson. Pediatrie. 1954;9(8):813–821. [PubMed] [Google Scholar]
  32. JOHNS D. Galactosemia; an unusual cause of neonatal jaundice. AMA Am J Dis Child. 1953 May;85(5):575–581. [PubMed] [Google Scholar]
  33. JOHNSON J. Cataracts in galactosemia. Am J Ophthalmol. 1953 Oct;36(10):1380–1386. doi: 10.1016/0002-9394(53)90796-x. [DOI] [PubMed] [Google Scholar]
  34. KALCKAR H. M., ANDERSON E. P., ISSELBACHER K. J. Galactosemia, a congenital defect in a nucleotide transferase. Biochim Biophys Acta. 1956 Apr;20(1):262–268. doi: 10.1016/0006-3002(56)90285-2. [DOI] [PubMed] [Google Scholar]
  35. KIRKMAN H. N., BYNUM E. Enzymic evidence of a galactosemic trait in parents of galactosemic children. Ann Hum Genet. 1959 Apr;23(2):117–126. doi: 10.1111/j.1469-1809.1958.tb01456.x. [DOI] [PubMed] [Google Scholar]
  36. KIRKMAN H. N., KALCKAR H. M. Enzymatic deficiency in congenital galactosemia and its heterozygous carriers. Ann N Y Acad Sci. 1958 Oct 13;75(1):274–278. doi: 10.1111/j.1749-6632.1958.tb36874.x. [DOI] [PubMed] [Google Scholar]
  37. LANGEWISCH W. H., BIGLER J. A. Disorders of glycogen metabolism; with special reference to glycogen storage disease and galactosemia. Pediatrics. 1952 Mar;9(3):263–279. [PubMed] [Google Scholar]
  38. LOCKHART J. D., ROBOZ E. Case of galactosemia identified in a four day old infant by paper chromatographic technic. Pediatrics. 1954 Mar;13(3):211–217. [PubMed] [Google Scholar]
  39. LODDING C. Galactosemia. Acta Paediatr. 1954 Nov;43(6):569–574. doi: 10.1111/j.1651-2227.1954.tb04066.x. [DOI] [PubMed] [Google Scholar]
  40. LOPRESTI J. M. Galactosemia; a case report with a review of the literature. Clin Proc Child Hosp Dist Columbia. 1952 Oct;8(10):233–242. [PubMed] [Google Scholar]
  41. MARIS L., VALCKE J. La galactosémie; aperçu général et relation d'un cas personnel. Arch Fr Pediatr. 1953;10(1):36–46. [PubMed] [Google Scholar]
  42. MORTENSEN O., SONDERGAARD G. Galactosaemia. Acta Paediatr. 1955 Mar;44(2):155–162. doi: 10.1111/j.1651-2227.1955.tb04126.x. [DOI] [PubMed] [Google Scholar]
  43. PATZ A. Cataracts in galactosemia; observations in three cases. Am J Ophthalmol. 1953 Apr;36(4):453–462. doi: 10.1016/0002-9394(53)90556-x. [DOI] [PubMed] [Google Scholar]
  44. RATHBUN J. C. Idiopathic galactose intolerance in a premature infant. Can Med Assoc J. 1955 Jun 15;72(12):923–925. [PMC free article] [PubMed] [Google Scholar]
  45. REITER C., LASKY M. A. Galactose cataractogenesis; review of literature and case report. Am J Ophthalmol. 1952 Jan;35(1):69–75. [PubMed] [Google Scholar]
  46. RITTER J. A., CANNON E. J. Galactosemia with cataracts; report of a case, with notes on physiopathology. N Engl J Med. 1955 May 5;252(18):747–752. doi: 10.1056/NEJM195505052521802. [DOI] [PubMed] [Google Scholar]
  47. RODIER P. Un cas de galactosémie chez un nourrisson de 2 mois. Arch Fr Pediatr. 1957;14(1):100–104. [PubMed] [Google Scholar]
  48. SALT H. B., ROSS C. A., GERRARD J. W. Low-lactose milk for congenital galactosaemia. Lancet. 1955 Jun 4;268(6875):1177–1178. doi: 10.1016/s0140-6736(55)90673-5. [DOI] [PubMed] [Google Scholar]
  49. SCHREIER K., ACKER R., HENCKEL H. Uber die Galaktosämie Mit einer Erörterung der Besonderheiten des Galaktosestoffwechsels. Z Kinderheilkd. 1957;79(6):666–679. [PubMed] [Google Scholar]
  50. SCHULTZE-JENA B. S., SCHAPER G. Galaktosämie. Z Kinderheilkd. 1957;80(3):267–294. [PubMed] [Google Scholar]
  51. SCHWARZ V., GOLBERG L., KOMROWER G. M., HOLZEL A. Some disturbances of erythrocyte metabolism in galactosaemia. Biochem J. 1956 Jan;62(1):34–40. doi: 10.1042/bj0620034. [DOI] [PMC free article] [PubMed] [Google Scholar]
  52. SMITH F. M. Galactosemia in an eight day old infant. J La State Med Soc. 1955 Feb;107(2):49–52. [PubMed] [Google Scholar]
  53. TOWNSEND E. H., Jr, MASON H. H., STRONG P. S. Galactosemia and its relation to Laennec's cirrhosis; review of the literature and presentation of six additional cases. Pediatrics. 1951 Jun;7(6):760–773. [PubMed] [Google Scholar]
  54. TURNBULL D. C. Galactosemic cataracts; a report of two cases. Am J Ophthalmol. 1956 Oct;42(4 Pt 1):602–606. [PubMed] [Google Scholar]
  55. WILHELM R. E. Differentiation of chronic galactosemia and milk allergy in early childhood. J Allergy. 1957 Sep;28(5):401–404. doi: 10.1016/0021-8707(57)90093-x. [DOI] [PubMed] [Google Scholar]

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

RESOURCES