NEWS

Genotypic phenotype prediction in PKU

New 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?

Is a variant (mutation) severe or mild?

>> Visit BIOPKUdb section <<

NEW PUBLICATIONS

Vieira Neto E., Laranjeira F., Quelhas D., Ribeiro I., Seabra A., Mineiro N., Carvalho L. M., Lacerda L., Ribeiro M. G., Genotype-phenotype correlations and BH4 estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast Brazil. Mol Genet Genomic Med (2019) e610.

https://www.ncbi.nlm.nih.gov/pubmed/30829006

Yan Y., Zhang C., Jin X., Zhang Q., Zheng L., Feng X., Hao S., Gao H., Ma X., Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants. Metab Brain Dis (2019).

https://www.ncbi.nlm.nih.gov/pubmed/30747360

Gundorova P., Stepanova A. A., Kuznetsova I. A., Kutsev S. I., Polyakov A. V., Genotypes of 2579 patients with phenylketonuria reveal a high rate of BH4 non-responders in Russia. PLoS One 14 (2019) e0211048.

https://www.ncbi.nlm.nih.gov/pubmed/30668579

Kure S., Shintaku H., Tetrahydrobipterin-responsive phenylalanine hydroxylase deficiency. J Hum Genet 64 (2019) 67-71.

https://www.ncbi.nlm.nih.gov/pubmed/30504912

Shirzadeh T., Saeidian A. H., Bagherian H., Salehpour S., Setoodeh A., Alaei M. R., Youssefian L., Samavat A., Touati A., Fallah M. S., Vahidnezhad H., Karimipoor M., Azadmehr S., Raeisi M., Bandehi Sarhadi A., Zafarghandi Motlagh F., Jamali M., Zeinali Z., Abiri M., Zeinali S., Additional individual contributors, Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population. J Inherit Metab Dis 41 (2018) 1159-1167.

https://www.ncbi.nlm.nih.gov/pubmed/30159852

Chen T., Xu W., Wu D., Han J., Zhu L., Tong F., Yang R., Zhao Z., Jiang P., Shu Q., Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China. Sci Rep 8 (2018) 17137.

https://www.ncbi.nlm.nih.gov/pubmed/30459323

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

Zhang Z., Gao J. J., Feng Y., Zhu L. L., Yan H., Shi X. F., Chang A. M., Shi Y., Wang P., Mutational spectrum of the phenylalanine hydroxylase gene in patients with phenylketonuria in the central region of China. Scand J Clin Lab Invest 78 (2018) 211-218.

https://www.ncbi.nlm.nih.gov/pubmed/29390883

Wang R, Shen N, Ye J, Han L, Qiu W, Zhang H, Liang L, Sun Y, Fan Y, Wang L, Wang Y, Gong Z, Liu H, Wang J, Yan H, Blau N, Gu X, Yu Y.
Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population. Clin Chim Acta, 2018

https://www.ncbi.nlm.nih.gov/pubmed/28534121

Blau N, Martinez A, Hoffmann GF, Thony B.
DNAJC12 deficiency: A new strategy in the diagnosis of hyperphenylalaninemias. Mol Genet Metab 123, 1-5, 2018

https://www.ncbi.nlm.nih.gov/pubmed/29174366

FREQUENTLY ACCESSED WEBSITES

AADC Research Trust

PND Association

E.S.PKU

WEBSITE MANAGER

Nenad Blau
view personal profile