Data di Pubblicazione:
2013
Citazione:
Use of sapropterin in the management of phenylketonuria : seven case reports / H. Ozel Gokmen, A.M. Lammardo, K. Motzfeldt, M. Robert, J.C. Rocha, M. van Rijn, K. Ahring, A. Bélanger Quintana, A. Macdonald, K. Dokoupil. - In: MOLECULAR GENETICS AND METABOLISM. - ISSN 1096-7192. - 108:2(2013 Feb), pp. 109-111. [10.1016/j.ymgme.2012.11.012]
Abstract:
Sapropterin treatment, with or without dietary treatment, improves blood phenylalanine control, increases
phenylalanine tolerance, and may reduce the day-to-day dietary treatment burden in a subset of patients
with phenylketonuria (PKU). Balancing the need for maintained control of blood phenylalanine with diet
relaxation is complex when administering sapropterin. We present a series of seven patient cases with PKU
that illustrate important aspects of using sapropterin with diet in the management of the disorder.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
Diet; Phenylalanine; Phenylketonuria; Sapropterin; Tetrahydrobiopterin
Elenco autori:
H. Ozel Gokmen, A.M. Lammardo, K. Motzfeldt, M. Robert, J.C. Rocha, M. van Rijn, K. Ahring, A. Bélanger Quintana, A. Macdonald, K. Dokoupil
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