BIOPKU :: International Database of Patients and Mutations causing BH4-responsive HPA/PKU

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Active Databases: all

About BioPKU.org

This website hosts databases of Pediatric Neurotransmitter Disorders (PND), including the locus-specific database of PAH variants and BIOPKU genotypes database.

Phanylalanine Hydroxylase Locus-Specific Database 3D structures [ OPEN ACCESS ]	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 my patient? Is my variant (mutation) severe or mild? >> Visit BIOPKUdb section << NEW PUBLICATIONS 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 view personal profile
Database of PKU genotypes Genotype-phenotype prediction BH4 responsiveness prediction [ OPEN ACCESS ]
BH4 deficiencies and PND Locus-Specific Databases (formerly BIOMDB) Link to BIODEF database Link to JAKE database [ OPEN ACCESS ]
Database of patients with PND AADC defiiciency TH deficiency Link to PND database [ OPEN ACCESS ]
Database of BH4-deficient patients Link to PND database [ CLOSED FOR MAINTENANCE ]

Copyright Notice

This Database despite being open to public access, is subject to copyright.
Any use of data contained within this web site must receive appropriate acknowledgement and credit, meaning you should cite the URL as follows:

Name of the database (e.g. PAHvdb, BIODEF, BIOPKU, JAKE or PNDdb) and http://www.biopku.org

Confidentiality of data relating to individual patients and visitors to the BioPKU Web site, including their identity, is respected by this web site. The web site owners undertake to honour or exceed the legal requirements of medical/ health information privacy that apply in the country and state where the web site and mirror sites are located.

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