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

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

Kure S., Shintaku H., Tetrahydrobipterin-responsive phenylalanine hydroxylase deficiency. J Hum Genet (2018) DOI: 10.1038/s10038-018-0529-5

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

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

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

Vieira Neto E., Laranjeira F., Quelhas D., Ribeiro I., Seabra A., Mineiro N., L D. M. Carvalho, Lacerda L., M G. Ribeiro, Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil. Mol Genet Genomic Med (2018).

https://www.ncbi.nlm.nih.gov/pubmed/29749107

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

Zhang Z, Gao JJ, Feng Y, Zhu LL, Yan H, Shi XF, Chang AM, 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, 1-8, 2018

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

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

Straniero, L., I. Guella, R. Cilia, L. Parkkinen, V. Rimoldi, A. Young, R. Asselta, G. Solda, V. Sossi, A. J. Stoessl, A. Priori, K. Nishioka, N. Hattori, J. Follett, A. Rajput, N. Blau, G. Pezzoli, M. J. Farrer, S. Goldwurm, A. H. Rajput and S. Duga (2017). "DNAJC12 and dopa-responsive non-progressive Parkinsonism." Ann Neurol. Epub ahead of press https://www.ncbi.nlm.nih.gov/pubmed/28892570

van Spronsen, F. J., N. Himmelreich, V. Rufenacht, N. Shen, D. V. Vliet, M. Al-Owain, K. Ramzan, S. M. Alkhalifi, R. J. Lunsing, R. M. Heiner-Fokkema, A. Rassi, C. Gemperle-Britschgi, G. F. Hoffmann, N. Blau and B. Thony (2017). "Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability." J Med Genet. Epub ahead of press https://www.ncbi.nlm.nih.gov/pubmed/2879413

FREQUENTLY ACCESSED WEBSITES

AADC Research Trust

PND Association

The World of PKU

E.S.PKU

WEBSITE MANAGER

Nenad Blau
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