Results 171 to 180 of about 11,988 (216)

Oral health care knowledge among Phenylketonuria patients in the Latvian population. [PDF]

Mol Genet Metab Rep
Abola I, Intlere NA, Brinkmane A, Laktina S, Zarina A, Vasilevska L, Skadins I, Moisejevs G, Gailite L, Auzenbaha M.   +9 more
europepmc   +1 more source

Transitioning of protein substitutes in patients with phenylketonuria: a pilot study. [PDF]

Front Nutr
Yilmaz Nas O, Ashmore C, Evans S, Pinto A, Daly A, Yabanci Ayhan N, MacDonald A.   +6 more
europepmc   +1 more source

Coexistence of a Leaky SCID Phenotype With Hyperphenylalaninemia in an Adult Case. [PDF]

Case Reports Immunol
Musabak U, Erdogan T, Akcay MS, Ceylaner S.   +3 more
europepmc   +1 more source

The Prevention of Maternal Phenylketonuria (PKU) Syndrome: The Development and Evaluation of a Specific Training Program. [PDF]

Nutrients
Rohde C, Thiele AG, Tomm A, Lier D, Eschrich K, Baerwald C, Beblo S.   +6 more
europepmc   +1 more source

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PKU: niet altijd ‘PKU’

Tijdschrift voor Kindergeneeskunde, 2010
Neonatale screening beoogt ernstige behandelbare aandoeningen bij de pasgeborene op te sporen. Een positieve screening voor fenylketonurie (PKU) betekent niet per definitie dat het gaat om hyperfenylalaninemie ten gevolge van klassieke PKU.
Croonen, E.A., Jonckheere, A.I., Morava, E.   +2 more
openaire   +4 more sources

Molecular genetics of PKU

Journal of Inherited Metabolic Disease, 1986
AbstractThis review summarizes the isolation of rat phenylalanine hydroxylase mRNA and its use in the synthesis of its cDNA. As rat cDNA cross‐hybridized with human phenylalanine hydroxylase mRNA, the rat cDNA probe was used to screen a human liver cDNA library.
Savio L. C. Woo, Flemming Güttler
openaire   +3 more sources