TY - JOUR
T1 - Cognitive, neurophysiological, neurological and psychosocial outcomes in early-treated PKU-patients: a start toward standardized outcome measurement across development
AU - van Spronsen, F. J.
AU - Huijbregts, S. C. J.
AU - Bosch, A. M.
AU - Leuzzi, V.
PY - 2011
Y1 - 2011
N2 - The aim of this paper is to provide a concise summary of findings from outcome studies in early-treated phenylketonuria (PKU). The paper should not be considered as an extensive review of the many different outcome measures that have been used in PKU-research, but as an attempt to integrate such findings so that they will be of additional value for day to day monitoring of PKU-patients and may direct future research to fill the present gaps of knowledge. Neurological, neuropsychological, neurophysiological, neuroimaging, quality of life, and psychosocial findings will be discussed in the context of their potential contributions to lifelong follow-up and treatment of PKU-patients being summarized in statements
AB - The aim of this paper is to provide a concise summary of findings from outcome studies in early-treated phenylketonuria (PKU). The paper should not be considered as an extensive review of the many different outcome measures that have been used in PKU-research, but as an attempt to integrate such findings so that they will be of additional value for day to day monitoring of PKU-patients and may direct future research to fill the present gaps of knowledge. Neurological, neuropsychological, neurophysiological, neuroimaging, quality of life, and psychosocial findings will be discussed in the context of their potential contributions to lifelong follow-up and treatment of PKU-patients being summarized in statements
U2 - https://doi.org/10.1016/j.ymgme.2011.09.036
DO - https://doi.org/10.1016/j.ymgme.2011.09.036
M3 - Review article
C2 - 22018724
SN - 1096-7192
VL - 104
SP - S45-S51
JO - Molecular Genetics and Metabolism
JF - Molecular Genetics and Metabolism
IS - Suppl
ER -