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Individual and Family Determinants for Quality of Life in Parents of Children with Inborn Errors of Metabolism Requiring a Restricted Diet: A Multilevel Analysis Approach

Archive ouverte | Ouattara, Abdoulaye | CCSD

International audience. Objective The objective of this study was to compare the quality of life (QoL) for parents of children with inborn errors of metabolism (IEMs) requiring a restricted diet with French populati...

Determinants of Quality of Life in Children with Inborn Errors of Metabolism Receiving a Restricted Diet

Archive ouverte | Ouattara, Abdoulaye | CCSD

International audience. Objective To investigate the determinants of quality of life (QoL) in children with inborn errors of metabolism with restricted diet (IEMRDs) using a single theory-based multidimensional mode...

Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness

Archive ouverte | Jeannesson-Thivisol, Elise | CCSD

International audience. BACKGROUND: Mutations in Phenylalanine Hydroxylase (PAH) gene cause phenylketonuria. Sapropterin (BH4), the enzyme cofactor, is an important therapeutical strategy in phenylketonuria. However...

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