Results 181 to 190 of about 7,483 (223)

Adults with Phenylketonuria have suboptimal bone mineral density apart from vitamin D and calcium sufficiency. [PDF]

Front Endocrinol (Lausanne)
Hanusch B, Schlegtendal A, Grasemann C, Lücke T, Sinningen K.   +4 more
europepmc   +1 more source

Genotypic and phenotypic characteristics of Turkish patients with phenylalanine metabolism disorders. [PDF]

Metab Brain Dis
Kuzucu FN, Kilic M, Sezer A, Has-Ozhan S, Yildiz H, Celen-Yoldas T, Onat FN, Uyanik M.   +7 more
europepmc   +1 more source

The investigation of serum phenylalanine levels based on infant feeding method: a cross-sectional study of children less than two years old with phenylketonuria (PKU). [PDF]

Int Breastfeed J
Mohammadzadeh Z, Sharifi L, Fatholahpour A, Bazshahi E.   +3 more
europepmc   +1 more source

Evaluation of Body Composition and Biochemical Parameters in Adult Phenylketonuria. [PDF]

Nutrients
Balci MC, Karaca M, Gunes D, Korbeyli HK, Selamioglu A, Gokcay G.   +5 more
europepmc   +1 more source

Odimet^®: A Pioneering Tele-Health Tool to Empower Dietary Treatment and the Acute Management of Inborn Errors of Metabolism-An Assessment of Its Effectiveness during the COVID Pandemic. [PDF]

Nutrients
Sánchez-Pintos P, Camba-Garea MJ, López-Pardo BM, Couce ML.   +3 more
europepmc   +1 more source

The struggle that is phenylketonuria: What do the patients and caregivers suffer from. [PDF]

Medicine (Baltimore)
Demirel D, Sivri S.
europepmc   +1 more source

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Phenylketonuria

The Lancet, 2010
Phenylketonuria is the most prevalent disorder caused by an inborn error in aminoacid metabolism. It results from mutations in the phenylalanine hydroxylase gene. Phenotypes can vary from a very mild increase in blood phenylalanine concentrations to a severe classic phenotype with pronounced hyperphenylalaninaemia, which, if untreated, results in ...
Blau, Nenad, van Spronsen, Francjan J, Levy, Harvey L   +2 more
openaire   +3 more sources

Genetics of Phenylketonuria: Heterozygosity for phenylketonuria

Nature, 1967
The first article deals with the problem of using the response to injected phenylalanine to determine whether or not the subject is heterozygous for phenylketonuria. The second article suggests a third allele on the phenylketonuria locus, the corresponding enzyme having a higher affinity for phenylalanine than has the “normal” enzyme.
W. I. Cranston, W. I. Cranston, B. L. Goodwin, L. I. Woolf   +3 more
openaire   +3 more sources

Maternal Phenylketonuria

Obstetrical & Gynecological Survey, 1986
AbstractPregnant women with untreated phenylketonuria (PKU) with blood phenylalanine levels greater than 1200 µmol/L usually give birth to offspring with congenital birth defects, including microcephaly, cardiac defects and mental retardation. According to Mabry and Levy, hyperphenylalaninaemic (HPA) women with blood phenylalanine levels between 600 ...
R, Koch, E G, Friedman, E, Wenz, K, Jew, C, Crowley, G, Donnell   +5 more
openaire   +2 more sources

Breastfeeding in phenylketonuria

Acta Paediatrica, 1999
Eighty‐three infants with classical phenylketonuria have been born in Norway since 1979. The treatment of these children is centralized at the National Hospital in Oslo. Seventy‐four have been breastfed in combination with a phenylalanine‐free protein substitute.
R Lilje, K Motzfeldt, G Nylander
openaire   +2 more sources