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La ricerca find articoli where soggetti phrase all words 'galactosaemia' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 11 riferimenti
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    1. Zekanowski, C; Nowacka, M; Radomyska, B; Cabalska, B
      Should newborn mutation scanning for hyperphenylalaninaemia and galactosaemia be implemented? A Polish experience

      JOURNAL OF MEDICAL SCREENING
    2. Fugelseth, D; Guthenberg, C; Hagenfeldt, L; Liestol, K; Hallerud, M; Lindemann, R
      Patent ductus venosus does not lead to alimentary galactosaemia in preterminfants

      ACTA PAEDIATRICA
    3. Okano, Y; Fujimoto, A; Miyagi, T; Hirono, A; Miwa, S; Niihira, S; Hirokawa, H; Yamano, T
      Two novel glucose-6-phosphate dehydrogenase variants found in newborn mass-screening for galactosaemia

      EUROPEAN JOURNAL OF PEDIATRICS
    4. Mizoguchi, N; Ono, H; Eguchi, T; Sakura, N
      Galactose metabolites in blood from neonates with and without hypergalactosaemia detected by mass screening

      EUROPEAN JOURNAL OF PEDIATRICS
    5. Tyfield, LA
      Galactosaemia and allelic variation at the galactose-1-phosphate uridyltransferase gene: a complex relationship between genotype and phenotype

      EUROPEAN JOURNAL OF PEDIATRICS
    6. Shield, JPH; Wadsworth, EKJ; MacDonald, A; Stephenson, A; Tyfield, L; Holton, JB; Marlow, N
      The relationship of genotype to cognitive outcome in galactosaemia

      ARCHIVES OF DISEASE IN CHILDHOOD
    7. Cheung, KL; Tang, NLS; Hsiao, KJ; Law, LK; Wong, W; Ng, PC; Pang, CP; Applegarth, DA; Fok, TF; Hjelm, NM
      Classical galactosaemia in Chinese: A case report and review of disease incidence

      JOURNAL OF PAEDIATRICS AND CHILD HEALTH
    8. Hirokawa, H; Okano, Y; Asada, M; Fujimoto, A; Suyama, I; Isshiki, G
      Molecular basis for phenotypic heterogeneity in galactosaemia: prediction of clinical phenotype from genotype in Japanese patients

      EUROPEAN JOURNAL OF HUMAN GENETICS
    9. Murphy, M; McHugh, B; Tighe, O; Mayne, P; O'Neill, C; Naughten, E; Croke, DT
      Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers

      EUROPEAN JOURNAL OF HUMAN GENETICS
    10. Keir, G; Winchester, BG; Clayton, P
      Carbohydrate-deficient glycoprotein syndromes: inborn errors of protein glycosylation

      ANNALS OF CLINICAL BIOCHEMISTRY
    11. Walter, JH; Roberts, REP; Besley, GTN; Wraith, JE; Cleary, MA; Holton, JB; MacFaul, R
      Generalised uridine diphosphate galactose-4-epimerase deficiency

      ARCHIVES OF DISEASE IN CHILDHOOD


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 08/08/20 alle ore 13:41:30