NEWS

Genotypic phenotype prediction

New search tool uses algorithms developed by the PKU Research Group and calculates APV (allelic phenotype value).

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NEW PUBLICATIONS

Ngiwsara L, Vatanavicharn N, Sawangareetrakul P, Liammongkolkul S, Ratanarak P, Boonyawat B, Srisomsap C, Champattanachai V, Ketudat-Cairns J, Wasant P, Svasti J. Molecular characterization of Thai patients with phenylalanine hydroxylase deficiency and in vitro functional study of two novel PAH variants. Mol Biol Rep,2021.

https://www.ncbi.nlm.nih.gov/pubmed/33677757

Hillert A, Anikster Y, Belanger-Quintana A, Burlina A, Burton BK, Carducci C, et al. The genetic landscape and epidemiology of phenylketonuria. Am J Hum Genet. 2020;107:234-50.

https://doi.org/10.1016/j.ajhg.2020.06.006

Zhao Z, Liu X, Huang C, Xu H, Fu C. Variants of the phenylalanine hydroxylase gene in neonates with phenylketonuria in Hainan, China. Scand J Clin Lab Invest 80,2020: 619-622.

https://www.ncbi.nlm.nih.gov/pubmed/33161754

Jafarzadeh-Esfehani R, Vojdani S, Hashemian S, Mirinezhad M, Pourafshar M, Forouzanfar N, Zargari S, Jaripour ME, Sadr-Nabavi A. Genetic variants of the phenylalanine hydroxylase gene in patients with phenylketonuria in the northeast of Iran. J Pediatr Endocrinol Metab 33,2020: 355-359.

https://www.ncbi.nlm.nih.gov/pubmed/32069237

Tao Y, Han D, Shen H, Li X. Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Shanxi province. Brain Dev. 2020.

https://www.ncbi.nlm.nih.gov/pubmed/32893076

Jafarzadeh-Esfehani R, Vojdani S, Hashemian S, Mirinezhad M, Pourafshar M, Forouzanfar N, et al. Genetic variants of the phenylalanine hydroxylase gene in patients with phenylketonuria in the northeast of Iran. J Pediatr Endocrinol Metab. 2020.

https://www.ncbi.nlm.nih.gov/pubmed/32069237

Polak E, Kadasi L. Molecular genetics, phenotypic diversity and recent trends of personalized medicine in phenylketonuria. ?es-slov Pediat. 2015;70(6):333-41.

Zastrow D. B., Baudet H., Shen W., Thomas A., Si Y., Weaver M. A., Lager A. M., Liu J., Mangels R., Dwight S. S., Wright M. W., Dobrowolski S. F., Eilbeck K., Enns G. M., Feigenbaum A., Lichter-Konecki U., Lyon E., Pasquali M., Watson M., Blau N., Steiner R. D., Craigen W. J., Mao R., ClinGen Inborn Errors of Metabolism Working Group, Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene. Hum Mutat 39 (2018) 1569-1580.

https://www.ncbi.nlm.nih.gov/pubmed/30311390

Garbade S. F., Shen N., Himmelreich N., Haas D., Trefz F. K., Hoffmann G. F., Burgard P., Blau N., Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria. Genet Med (2018) DOI: 10.1038/s41436-018-0081-x.

https://www.ncbi.nlm.nih.gov/pubmed/29997390

FREQUENTLY ACCESSED WEBSITES

AADC Research Trust

PND Association

E.S.PKU

WEBSITE MANAGER

Nenad Blau
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