Preliminary data on the detection of phenylketonuria in the Cluj district
Popescu, A.; Butnariu, J.; Toma, C.; Scurtu, C.; Milcu, M.; Bojan, O.; Muschievici, D.
Revista de Pediatrie Obstetrica Si Ginecologie. Pediatria 29(2): 139-145
1980
ISSN/ISBN: 0303-8416 PMID: 6776607 Document Number: 5642
Pe baza cunostintelor actuale, se diferentiaza doua forme clasice de fenilcetonurie si sase variante de hiperfenilalaninemie. Klaus Bartholome si colab. descriu o forma clinica de hiperfenilalaninemie, cu activitate normala a fenilalaninhidroxilazei. Aceasta ar reprezenta „o varianta atipica" de fenilcetonurie, avînd drept caracteristica majora lipsa de raspuns la tratamentul obisnuit al fenilcetonuriei clasice.
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