Results 11 to 20 of about 538,734 (195)

Recommendations for the nutrition management of phenylalanine hydroxylase deficiency [PDF]

Genetics in Medicine, 2014
The effectiveness of a phenylalanine-restricted diet to improve the outcome of individuals with phenylalanine hydroxylase deficiency (OMIM no. 261600) has been recognized since the first patients were treated 60 years ago. However, the treatment regime is complex, costly, and often difficult to maintain for the long term.
Jerry Vockley, Patricia Splett, Kathryn Moseley   +2 more
exaly   +7 more sources

Phenylalanine hydroxylase mutations and phenylalanine-tyrosine metabolism in heterozygotes for phenylalanine hydroxylase deficiency

Acta Paediatrica, 2002
The aim of this study was to determine whether any relationship exists between the severity of mutation of the phenylalanine hydroxylase (PAH) gene and the plasma concentrations of phenylalanine (Phe) and tyrosine (Tyr) under fasting and semifasting conditions among heterozygotes in a matched case-control study.
E. Verduci, E. Riva, C. Agostoni, S. Leviti, L. Fiori, A.M. Lammardo, M. L. Biondi, M. Giovannini   +7 more
core   +5 more sources

Tetrahydrobiopterin‐responsive phenylalanine hydroxylase deficiency in Dutch neonates

Journal of Inherited Metabolic Disease, 2001
AbstractFour neonates with a positive phenylalanine screening test (Phe concentrations between 258 and 1250 μmol/L) were investigated further to differentiate between phenylalanine hydroxylase (PAH) deficiency and variant hyperphenylalaninaemia (HPA) forms. In patients 1 and 2 a tetrahydrobiopterin (BH4) load caused a significant decrease of the plasma
Spaapen, L. J., Bakker, J. A., Velter, C., Loots, W., Rubio-Gozalbo, M. E., Forget, P. P., Dorland, L., de Koning, T. J., Poll-The, B. T., Ploos van Amstel, H. K., Bekhof, J., Blau, N., Duran, M., Rubio-Gonzalbo, M. E.   +13 more
openaire   +4 more sources

The analysis of the phenylalanine hydroxylase gene mutations by sequencing and ARMS techniques in Turkish patients

Çukurova Üniversitesi Tıp Fakültesi Dergisi, 2016
Purpose: Phenylketonuria is an autosomal recessive deficiency of the hepatic enzyme phenylalanine hydroxylase. With this study, detection of the most frequent phenylalanine hydroxylase gene mutations in Turkish population is aimed. Material and Methods:
Umit Luleyap, Percin Pazarci, Gamze Comertpay, Halise Neslihan Onenli, Ayfer Pazarbasi, Davut Alptekin, Halil Kasap, Ursula Froster   +7 more
doaj   +2 more sources

Phenylketonuria and glycogen storage disease type III in sibs of one family

The Turkish Journal of Pediatrics, 2002
Hyperphenylalaninemia result from a block in the conversion of phenylalanine into tyrosine due to a defect in either the enzyme phenylalanine hydroxylase (98% of subjects) or in the metabolism of the cofactor tetrahydrobiopterin.
Tuncay Yilmazer, Albert H Van Gennip, Nico G G M Abeling, Imran Ozalp, Turgay Coşkun, Henk D Bakker   +5 more
doaj   +1 more source

R2Tg retrotransposon mediated targeted integration of exogenous genes into the 28S rDNA locus in mammalian cell lines for PKU gene therapy [PDF]

Frontiers in Genome Editing
Phenylketonuria (PKU) remains a challenging genetic disorder due to the absence of therapeutic strategies capable of achieving sustained restoration of phenylalanine hydroxylase (PAH) function.
Xiuyuan Wang, Xiuyuan Wang, Xiuyuan Wang, Ziqi Wen, Ziqi Wen, Ziqi Wen, Rongjun Xu, Rongjun Xu, Rongjun Xu, Wenjing Shi, Wenjing Shi, Wenjing Shi, Yiling Long, Yiling Long, Yiling Long, Xingri Zhan, Xingri Zhan, Xingri Zhan, Rui Su, Rui Su, Rui Su, Jia Fei, Jia Fei, Jia Fei, Yumin Li   +24 more
doaj   +2 more sources

Characterization of phenylalanine hydroxylase gene variants and analysis of genotype–phenotype correlation in patients with phenylalanine hydroxylase deficiency from Fujian Province, Southeastern China [PDF]

Molecular Biology Reports, 2022
Liangpu Xu, Jin-Fu Zhou, Xiaolong Qiu
exaly   +2 more sources

Impact of Dietary Intake on Bone Turnover in Patients with Phenylalanine Hydroxylase Deficiency [PDF]

JIMD Reports, 2017
Kathryn Coakley, Vin Tangpricha, Peter Wilson   +2 more
exaly   +2 more sources

Mapping the Severity of Phenylalanine Hydroxylase Deficiency. [PDF]

J Inherit Metab Dis
ABSTRACT Since the 1960s, phenylalanine hydroxylase (PAH) deficiency can be detected via newborn screening, allowing early start of treatment to prevent severe intellectual disability. Precise determination of PAH deficiency severity continues to be hampered by several factors. Nevertheless, as therapeutic options
Haitjema S, van Steenis EM, Lubout CMA, Heiner-Fokkema MR, Zschocke J, van Spronsen FJ.   +5 more
europepmc   +2 more sources

Long-term safety of sapropterin in paediatric and adult individuals with phenylalanine hydroxylase deficiency: Final results of the Kuvan® Adult Maternal Paediatric European Registry multinational observational study [PDF]

Journal of Inherited Metabolic Disease
David Olsson, Alberto B Burlina, Ania Muntau   +2 more
exaly   +2 more sources