Results 111 to 120 of about 499,338 (183)

Maternal phenylketonuria and hyperphenlalaninemia

, 1980
Levy, Harvey L., Lenke, Roger R.
core  

Development of a face-validated conceptual model structure for economic evaluation in phenylketonuria, through expert elicitation. [PDF]

Orphanet J Rare Dis
Muntau AC, Zhang R, Chakrapani A, Hamazaki T, Lah M, Ruebel DJ, Vijay S, Zori RT, Feillet F, Longo N, Northrup H, Hollander S, O'Connell T, Woolley JJ, Tomazos I.   +14 more
europepmc   +1 more source

The First 1000 Days of PKU: A Narrative Review of Maternal PKU and Early Life Management After Positive Newborn Screening. [PDF]

Nutrients
Verduci E, Tosi M, Zuvadelli J, Giorda S, Biasucci G, Leuzzi V, Spada M, Burlina A, Dionisi Vici C, PKU Expert Group.   +9 more
europepmc   +1 more source

Changes in Child Behaviour Following a Brief Parenting Intervention (Triple P) for Families of Children with Phenylketonuria (PKU): A Case Series. [PDF]

Behav Modif
Kirby G, Morawska A, Mitchell AE, McGill J, Coman D, Inwood A.   +5 more
europepmc   +1 more source

Decentralized rare disease studies in Germany: first results and hurdles of secondary use of patient data. [PDF]

BMC Med Inform Decis Mak
Zoch M, Gierschner C, Weidner J, Sedlmayr M, Müller G, Choukair D, Hoffmann GF, Toepfner N, Berner R, Prasser F, Schepers J, Hebestreit H.   +11 more
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

Cardiac teratogenicity in mouse maternal phenylketonuria: defining phenotype parameters and genetic background influences. [PDF]

Mol Genet Metab, 2012
Seagraves NJ, McBride KL.
europepmc   +1 more source

Routine neonatal screening for phenylketonuria in the United Kingdom 1964-78.

, 1981
Medical Research Council. Steering Committee for the MRC/DHSS Phenylketonuria Register.
core  

Impact of gut probiotic metabolites on phenylketonuria. [PDF]

Front Cell Infect Microbiol
Kalla Veedu A, Vijayakumar S, Joseph HA, Thomas J.   +3 more
europepmc   +1 more source

Newborn Screening for Spinal Muscular Atrophy in the Republic of Moldova: A Feasibility Study and First Steps. [PDF]

Int J Neonatal Screen
Coliban I, Usurelu N, Opalco I, Gladun S, Sacara V.   +4 more
europepmc   +1 more source