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About BioPKU.org
This website hosts databases of Pediatric Neurotransmitter Disorders (PND), including the locus-specific database of PAH variants and BIOPKU genotypes database.
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NEWSGenotypic phenotype predictionNew search tool uses algorithms developed by the PKU Research Group and calculates APV (allelic phenotype value). >> Visit BIOPKUdb section <<
NEW PUBLICATIONSGao J, Li X, Guo Y, Yu H, Song L, Fang Y, Yuan E, Shi Q, Zhao D, Yuan E, Zhang L. Identification of phenylketonuria patient genotypes using single-gene full-length sequencing. Hum Genomics 16,2022: 23. https://www.ncbi.nlm.nih.gov/pubmed/35869558 Khaghani F, Eshraghi P, Hamzehloie T. Tetrahydrobiopterin responsiveness in Phenylalanine hydroxylase deficient patients from North-east of Iran: Genotype-phenotype correlation, identification of a novel mutation and 7 new responsive genotypes. Eur J Med Genet,2022: 104536. https://www.ncbi.nlm.nih.gov/pubmed/35690318 Cinar M, Kilic Yildirim G, Kocagil S, Cilingir O. Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Turkey. J Pediatr Endocrinol Metab,2022. https://www.ncbi.nlm.nih.gov/pubmed/35355500 Alibakhshi R, Kazeminia M, Moradi K. The pathogenicity classification of PAH gene variants in the Iranian population. Comput Biol Chem 98,2022: 107665. https://www.ncbi.nlm.nih.gov/pubmed/35339094 Jin X, Yan Y, Zhang C, Tai Y, An L, Yu X, Zhang L, Hao S, Cao X, Yin C, Ma X. Identification of novel deep intronic PAH gene variants in patients diagnosed with phenylketonuria. Hum Mutat 43,2022: 56-66. https://www.ncbi.nlm.nih.gov/pubmed/34747549 van Spronsen FJ, Blau N, Harding C, Burlina A, Longo N, Bosch AM. Phenylketonuria. Nat Rev Dis Primers 7,2021: 36. https://www.ncbi.nlm.nih.gov/pubmed/34017006 Xiao Y, Gu Q, Wu HR, Wang ST, Pei P, Zheng XF, Pan H, Ma YN. Molecular diagnosis of phenylketonuria in 157 Chinese families and the results of prenatal diagnosis in these families. Chin Med J (Engl),2021. https://www.ncbi.nlm.nih.gov/pubmed/34039861 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 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
WEBSITE MANAGERNenad Blau
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