Results 131 to 140 of about 31,184 (250)

Phenylketonuria [PDF]

BMJ, 1963
J D, ALLAN, K S, HOLT, F P, HUDSON, J T, IRELAND   +3 more
openaire   +2 more sources

Testing for phenylketonuria. [PDF]

, 1969
J. W. Farquhar
openalex   +3 more sources

Newborn screening using tandem mass spectrometry: A systematic review [PDF]

Objectives: To evaluate the evidence for the clinical effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS).
Beverley, C., Chilcott, J., Eastham, J., Paisley, S., Pandor, A.   +4 more
core  

The Genetic Landscape and Epidemiology of Phenylketonuria.

American Journal of Human Genetics, 2020
Alicia Hillert, Y. Anikster, A. Bélanger-Quintana, A. Burlina, B. Burton, C. Carducci, A. Chiesa, J. Christodoulou, M. Đorđević, L. Desviat, A. Eliyahu, Roeland A. F. Evers, L. Fajkusová, F. Feillet, Pedro E Bonfim-Freitas, M. Giżewska, P. Gundorova, D. Karall, K. Kneller, S. Kutsev, V. Leuzzi, H. Levy, U. Lichter-Konecki, A. Muntau, F. Namour, M. Ołtarzewski, A. Paras, B. Pérez, E. Polák, A. Polyakov, F. Porta, M. Rohrbach, S. Scholl-Bürgi, N. Specola, M. Stojiljkovic, N. Shen, Luiz C Santana-da Silva, A. Skouma, F. V. van Spronsen, Vera Stoppioni, B. Thöny, F. Trefz, J. Vockley, Youngguo Yu, J. Zschocke, G. Hoffmann, S. Garbade, N. Blau   +47 more
semanticscholar   +1 more source

Results of Treatment in Phenylketonuria [PDF]

, 1961
S. Coates
openalex   +1 more source

Specific characteristics of dynamic monitoring of patients diagnosed with classical phenylketonuria during pregnancy

Лечащий Врач
Background. The main therapy for phenylketonuria is a specialised diet with restriction of natural protein, respectively phenylalanine with the prescription of specialised therapeutic foods based on amino acids without phenylalanine.
E. A. Shestopalova
doaj   +1 more source

Suboptimal provision of medications and dietary products for phenylketonuria in Malta [PDF]

, 2016
In Malta phenylketonuria (PKU) is mostly due to dihydropteridine reductase (DHPR) deficiency rather than phenylalanine hydroxylase deficiency (classical PKU), and is associated with long term neurodisability in all affected patients.
Attard Montalto, Simon, Attard, Stephen
core  

Phenylketonuria in New York State: Incidence and Prevalence [PDF]

, 1967
Sally Kelly, Joseph Palombi
openalex   +1 more source

The Effect of Empowerment Program for Nurses Regarding Management of Children with Phenylketonuria [PDF]

, 2019
Context: Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. If PKU did not diagnose early in life or the affected children with PKU do not be compliant with the ...
Draz, Safaa, Said, Khadiga
core   +1 more source

Dietetic treatment of phenylketonuria: a follow-up study. [PDF]

, 1967
B. E. Clayton, Alan Moncrieff, G. E. Roberts   +2 more
openalex   +1 more source