Artigo Revisado por pares

Problems in the Diagnosis of Hereditary Galactosaemia

1967; Wiley; Volume: 56; Issue: 1 Linguagem: Inglês

10.1111/j.1651-2227.1967.tb15347.x

ISSN

1651-2227

Autores

N. J. Brandt, Niels Tolstrup,

Tópico(s)

Erythrocyte Function and Pathophysiology

Resumo

Acta PaediatricaVolume 56, Issue 1 p. 85-96 Problems in the Diagnosis of Hereditary Galactosaemia N. J. BRANDT, N. J. BRANDT Central Laboratory, Glostrup Hospital, Copenhagen, DenmarkSearch for more papers by this authorN. TOLSTRUP, N. TOLSTRUP Central Laboratory, Glostrup Hospital, Copenhagen, DenmarkSearch for more papers by this author N. J. BRANDT, N. J. BRANDT Central Laboratory, Glostrup Hospital, Copenhagen, DenmarkSearch for more papers by this authorN. TOLSTRUP, N. TOLSTRUP Central Laboratory, Glostrup Hospital, Copenhagen, DenmarkSearch for more papers by this author First published: January 1967 https://doi.org/10.1111/j.1651-2227.1967.tb15347.xCitations: 6AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat References 1 Anderson, E. P., Kalckar, H. M., Kurahashi, K. and Isselbacher, K. J.: A specific enzymatic assay for the diagnosis of eongenital galactosemia. J Lab Clin Med 50: 469, 1957. CASPubMedWeb of Science®Google Scholar 2 Beutler, E., Baluda, M. C., Sturgeon, P. and Day, R.: A new genetic abnormality resulting in galactose-l-phosphate-uridyl-transferase deficiency. Lancet I: 353, 1965. 10.1016/S0140-6736(65)91782-4 CASGoogle Scholar 3 Brandt, N. J.: To be published. Google Scholar 4 Brandt, N. J.: Galaktosæmi. En oversigt og to tilfælde. Ugeskr Læg 122: 1229, 1960. Google Scholar 5 Brandt, N. J.: Galaktose-1-fosfat-uridyl-transferase. Thesis, Munksgård, Copenhagen 1966. Google Scholar 6 Committee Report, American Academy of Pediatrics. Pediatrics, 35: 499, 1965. PubMedGoogle Scholar 7 Donnell, G. N., Bergren, W. R., Perry, G. and Koch, R.: Galactose-1-phosphate in galactosemia. Pediatrics 31: 802, 1963. CASPubMedWeb of Science®Google Scholar 8 Donnell, G. N., Callado, M. and Koch, R.: Growth and development of children with galactosemia. J Pediat 58: 836, 1961. 10.1016/S0022-3476(61)80139-X CASPubMedWeb of Science®Google Scholar 9 Guthrie, R.: Routine screening for inborn errors in the newborn. Proceedings of International Congress of Mental Retardation Copenhagen 2: 495, 1965. Google Scholar 10 Guthrie, R. and Susi, A.: Simple phenyl-alanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 32: 338, 1963. CASPubMedWeb of Science®Google Scholar 11 Halvorsen, S. and Gjessing, L. R.: Studies on tyrosinosis. Brit Med J II: 1171, 1964. 10.1136/bmj.2.5418.1171 CASGoogle Scholar 12 Hansen, R. G., Bretthauer, R. K., Mayes, J. and Nordin, J. H.: Estimation of frequency of occurrence of galactosemia in a population. Proc Soc Exp Biol Med 115: 560, 1964. 10.3181/00379727-115-28968 CASPubMedWeb of Science®Google Scholar 13 Holzel, A., Komrower, G.M. and Schwarz, V.: Galactosemia. Amer J Med 22: 703, 1957. 10.1016/0002-9343(57)90121-3 CASPubMedWeb of Science®Google Scholar 14 Holzel, A., Komrower, G.M. and Schwarz, V.: Galactosaemia. Mod Probl Pädiat 3: 359, 1957. Google Scholar 15 Hsia, D. Y. and Walker, F. A.: Variability in the clinical manifestations of galactosemia. J Pediat 59: 872, 1961. 10.1016/S0022-3476(61)80317-X CASPubMedWeb of Science®Google Scholar 16 Hugh-Jones, K., Newcomb, A. L. and Hsia, D. Y.: The genetic mechanism of galactosaemia. Arch Dis Childh 35: 521, 1960. 10.1136/adc.35.184.521 CASPubMedWeb of Science®Google Scholar 17 Kalckar, H. M., Anderson, E. P. and Isselbacher, K. J.: Galactosemia, a congenital defect in a nucleotide transferase. Biochim Biophys Acta 20: 262, 1956. 10.1016/0006-3002(56)90285-2 CASPubMedWeb of Science®Google Scholar 18 Lund, E. and Wamberg, E.: Phenylketonuri. Ugeskr Læg 126: 497, 1964. CASPubMedGoogle Scholar 19 Mortensen, O. and Søndergård, G.: Galactosaemia. Acta Pædiat Scand 44: 155, 1955. 10.1111/j.1651-2227.1955.tb04126.x CASPubMedGoogle Scholar 20 Schwarz, V.: The value of galactose phosphate determinations in the treatment of galactosemia. Arch Dis Childh 35: 428, 1960. 10.1136/adc.35.183.428 CASPubMedWeb of Science®Google Scholar 21 Schwarz, V., Wells, A. R., Holzel, A. and Komrower, G. M.: A study of the genetics of galactosaemia. Ann Hum Genet 25: 179, 1961. 10.1111/j.1469-1809.1962.tb01518.x CASPubMedWeb of Science®Google Scholar 22 Thorn, I.: Galaktosæmi. Nord Med 71: 347, 1964. Google Scholar 23 Tolstrup, N.: Galaktosæmi. En kongenit enzymdefekt og dens påvisning. Ugeskr Læg 122: 1235, 1960. CASPubMedGoogle Scholar 24 Tolstrup, N.: Hereditær galaktosæmi. Nord Med 67: 742, 1962. Google Scholar 25 Tolstrup, N.: Hereditær galaktosæmi. Thesis, Frost-Hansen, Copenhagen , 1965. Google Scholar 26 Vestermark, S., Wulff, H. L. G. and Zachau-Christiansen, B.: Familial hepatic cirrhosis in infancy. Dan Med Bull 11: 46, 1964. CASPubMedGoogle Scholar Citing Literature Volume56, Issue1January 1967Pages 85-96 ReferencesRelatedInformation

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