Results 61 to 70 of about 3,357 (148)

Comparison of the physical health in adult patients with phenylketonuria (PKU) and healthy age-matched controls [PDF]

, 2009
Berlepsch, Juliana Freiin von, Freiin von Berlepsch, Juliana   +1 more
core  

Psychosocial Factors in Maternal Phenylketonuria: Prevention of Unplanned Pregnancies

, 1991
Waisbren, Susan E., Shiloh, Shoshana, St. James, Paula and Levy, Harvey L.   +2 more
core   +1 more source

The phenylketonuria: State of the art [LA FENILCHETONURIA OGGI]

, 1992
Phenylketonuria is an autosomal recessive inborn error of phenylalanine metabolism due to the lack of phenylalanine (phe) hydroxylase enzymatic activity. The different clinical forms are correlated to the variable levelof residual enzyme activity, to the
Biasucci G, Ghiglioni D, Riva E, Giovannini M   +3 more
core  

Maternal Phenylketonuria: Long-term Outcomes in Offspring and Post-pregnancy Maternal Characteristics. [PDF]

JIMD Rep, 2015
Waisbren SE, Rohr F, Anastasoaie V, Brown M, Harris D, Ozonoff A, Petrides S, Wessel A, Levy HL.   +8 more
europepmc   +1 more source

Prenatal supply of docosahexaenoic acid (DHA): should we be worried? [PDF]

, 2008
Koletzko, Berthold
core   +1 more source

Maternal phenylketonuria [PDF]

, 2020
openaire   +1 more source

Impact of depression on quality of life in PKU children. [PDF]

Eur J Pediatr
Abuelela IS, Bebars GM, Kamal AM, Sayed SI, Refaat RS.   +4 more
europepmc   +1 more source

Rare diseases in the Turkish-Cypriot community: a nationwide study. [PDF]

J Community Genet
Koyutourk B, Ergoren MC.
europepmc   +1 more source

Evaluation of the resilience status of children with inherited metabolic disorders and the levels of their mothers' burnout and resilience. [PDF]

BMC Pediatr
Özsaydi Aktaşoğlu E, Akyüz A, Gökalp S, Altun AN, Demi̇r F, Gönen E, Soysal Acar AŞ, İnci̇ A, Okur İ, Ezgü FS, Tümer L.   +10 more
europepmc   +1 more source

Newborn screening for inherited metabolic disorders in central China: a retrospective study of 153,956 infants using non-derivatized tandem mass spectrometry. [PDF]

Sci Rep
Han D, Tao Y, Li J, Wang L, Song W, Li X.   +5 more
europepmc   +1 more source