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Hetereogeneity in tetrabiopterindeficiency: combined phenylalanine –tetrahydrobiopterin test

Authors :
Ponzone A, 9. 4.
Guardamagna, Ornella
Ferraris, S
Ferrero, Giovanni Battista
Blau, N
Curtius H., Ch
Kierat, L
Cotton, R. G. H.
Publication Year :
1990
Publisher :
Walter de Gruyter & Co, 1990.

Subjects

Subjects :
Hyperphenilalaninemia
tetrahydrobiopterin
BH4 deficiency
phenotype variability

Details

Language :
English
Database :
OpenAIRE
Accession number :
edsair.od.......970..d2dbb7bb3b021bb4a9d4d252881d9d7d

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Authors Abstract Subjects Details