Zobrazeno 1 - 5
of 5
pro vyhledávání: '"S. E. Waisbren"'
Autor:
M. E. Rubio-Gozalbo, M. Haskovic, A. M. Bosch, B. Burnyte, A. I. Coelho, D. Cassiman, M. L. Couce, C. Dawson, D. Demirbas, T. Derks, F. Eyskens, M. T. Forga, S. Grunewald, J. Häberle, M. Hochuli, A. Hubert, H. H. Huidekoper, P. Janeiro, J. Kotzka, I. Knerr, P. Labrune, Y. E. Landau, J. G. Langendonk, D. Möslinger, D. Müller-Wieland, E. Murphy, K. Õunap, D. Ramadza, I. A. Rivera, S. Scholl-Buergi, K. M. Stepien, A. Thijs, C. Tran, R. Vara, G. Visser, R. Vos, M. de Vries, S. E. Waisbren, M. M. Welsink-Karssies, S. B. Wortmann, M. Gautschi, E. P. Treacy, G. T. Berry
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-11 (2019)
Abstract Background Classic galactosemia is a rare inborn error of carbohydrate metabolism, caused by a severe deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). A galactose-restricted diet has proven to be very effective to t
Externí odkaz:
https://doaj.org/article/20f1c5ba16b242a794c606a704d94859
Publikováno v:
Clinical endocrinology. 58(5)
To test the hypothesis that thyroglobulin (Tg) and free T4 (FT4) concentrations more than 2SD from the control mean are not increased in pregnancy in an iodine replete area in the absence of elevated TSH concentrations. The second hypothesis to be te
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a35becc6601f30fa1eaced3700516c19
https://pubmed.ncbi.nlm.nih.gov/12699443
https://pubmed.ncbi.nlm.nih.gov/12699443
Publikováno v:
Journal of inherited metabolic disease. 24(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6d8d3c121baf104f6ea773a153542d36
https://pubmed.ncbi.nlm.nih.gov/11596658
https://pubmed.ncbi.nlm.nih.gov/11596658
Publikováno v:
American journal of medical genetics. 96(2)
Methylmalonic acidemia is an inborn error of metabolism known to be a cause of ketoacidosis and mental retardation. The less severe mut(-) form of the disorder, however, has been described with only mild to moderate cognitive deficits or, rarely, wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9bf4decd73a620df765cb86c0d1e22c1
https://pubmed.ncbi.nlm.nih.gov/10893496
https://pubmed.ncbi.nlm.nih.gov/10893496
Autor:
S E, Waisbren
Publikováno v:
American journal of mental deficiency. 84(4)
Thirty families with a developmentally disabled child less than 1.5 years old were compared to 30 families with a nonhandicapped child. One-half of the families lived in California, and half lived in Denmark. Findings indicated that parents with a ve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8dc47aa82936a076dae2c139cffb11c3
https://pubmed.ncbi.nlm.nih.gov/6444494
https://pubmed.ncbi.nlm.nih.gov/6444494