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 No news at the moment NEW PUBLICATIONS Muntau, A. C., A. Burlina, F. Eyskens, P. Freisinger, C. De Laet, V. Leuzzi, F. Rutsch, H. S. Sivri, S. Vijay, M. O. Bal, G. Gramer, R. Pazdirkova, M. Cleary, A. S. Lotz-Havla, A. Munafo, D. R. Mould, F. Moreau-Stucker and D. Rogoff (2017). "Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial." Orphanet J Rare Dis 12(1): 47. https://www.ncbi.nlm.nih.gov/pubmed/28274234 Anikster, Y., et al.(2017). "Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability." Am J Hum Genet. https://www.ncbi.nlm.nih.gov/pubmed/28132689 van Spronsen, F. J., et al. (2017). "Key European guidelines for the diagnosis and management of patients with phenylketonuria." Lancet Diabetes Endocrinol. https://www.ncbi.nlm.nih.gov/pubmed/28082082 Pan, Y., N. Shen, S. Jung-Klawitter, C. Betzen, G. F. Hoffmann, J. D. Hoheisel and N. Blau (2016). "CRISPR RNA-guided FokI nucleases repair a PAH variant in a phenylketonuria model." Sci Rep 6: 35794. https://www.ncbi.nlm.nih.gov/pubmed/2778618 Trunzo, R., R. Santacroce, N. Shen, S. Jung-Klawitter, A. Leccese, G. De Girolamo, M. Margaglione and N. Blau (2016). "In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU." Gene 594: 138-143. https://www.ncbi.nlm.nih.gov/pubmed/27620137 Blau, N. (2016). "Genetics of Phenylketonuria: Then and Now." Hum Mutat 37(6): 508-15.http://www.ncbi.nlm.nih.gov/pubmed/26919687 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 [OPEN ACCESS]

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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