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 prediction in PKUNew search feature uses algorithms developed by the Heidelberg PKU Research Group and calculates APV (allelic phenotype value). How severe is the genotype of your patient? >> Visit BIOPKUdb section <<
NEW PUBLICATIONSKreile, M., Lubina, O., Ozola-Zalite, I., Lugovska, R., Pronina, N., Sterna, O., Vevere, P., Konika, M., Malniece, I., and Gailite, L. (2020). Phenylketonuria in the Latvian population: Molecular basis, phenylalanine levels, and patient compliance. MGM Reports 25, 100671. https://www.ncbi.nlm.nih.gov/pubmed/33101986 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 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
WEBSITE MANAGERNenad Blau
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