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The Impact of Phenylketonuria on PKU Patients’ Quality of Life: Using of the Phenylketonuria-Quality of Life (PKU-QOL) Questionnaires

Clinical Nutrition ESPEN, 2018
Phenylketonuria (PKU) has a very high prevalence throughout the world. Nowadays, number of studies about impact of this metabolic disease on patients increasing. The aim of our study is to examine PKU patients' quality of life according to PKU-QOL questionnaires.Patients (n = 63) diagnosed with PKU were included this study; child (9-11 years (n = 20)),
İsmail Mucahit Alptekin, Nevra Koc, Funda Pınar Çakıroğlu   +2 more
exaly   +5 more sources

New Strategies for the Treatment of Phenylketonuria (PKU) [PDF]

Metabolites, 2014
Phenylketonuria (PKU) was the first inherited metabolic disease in which dietary treatment was found to prevent the disease’s clinical features. Treatment of phenylketonuria remains difficult due to progressive decrease in adherence to diet and the presence of neurocognitive defects despite therapy.
Pietro Strisciuglio, Daniela Concolino
exaly   +4 more sources

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Maternal phenylketonuria (PKU) — A review

Clinical Biochemistry, 1987
This review points out the very high incidence of damage to the fetus in untreated maternal phenylketonuria (PKU). In classical cases, 92% of the offspring are mentally retarded, 73% have microcephaly, 40% are growth retarded at birth, and 12% have congenital anomalies.
W B, Hanley, J T, Clarke, W, Schoonheyt
openaire   +2 more sources

Pearl S. Buck and Phenylketonuria (PKU)

Journal of the History of the Neurosciences, 2004
In 1921, Pearl S. Buck gave birth to a daughter, Carol, who became severely retarded and was eventually institutionalized at the Vineland Training School in New Jersey. To help pay for her daughter's care, Buck wrote The Good Earth in 1931, and then other novels and biographies about her life in China, for which she was awarded the Nobel and Pulitzer ...
Shawn E Christ, Stanley Finger
exaly   +3 more sources

Incidence of Phenylketonuria (PKU) in Iran

Indian Journal of Pediatrics, 1982
To find the incidence of PKU in Iran, 8633 neonates from different hospitals in Tehran were screened. Seven of these neonates had minor hyperphenylalaninemia (5 with 6 mg% and 2 with 8 mg%). Only one case with hyperphenylalaninemia (more than 20 mg%) was detected.
D D, Farhud, M, Kabiri
exaly   +3 more sources

Phenylketonuria: screening, treatment and maternal PKU

Clinical Biochemistry, 1991
Phenylketonuria (PKU) has become a paradigm of a disease that can be identified by screening in the newborn period and treated to prevent serious complications. After many years of experience treating PKU, new challenges have emerged. It has become apparent that defective activity of phenylalanine hydroxylase leads to a spectrum of clinical ...
R, Matalon, K, Michals
openaire   +2 more sources