BIODEF BIODEF BIOMDB BIOPKU JAKEdb BH4 Literature Research

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

BH4 Responsiveness Predition

NEW PUBLICATIONS

Kim, Y., Y. G. Yang, H. Kim and Y. S. Park (2015). "Dictyostelium discoideum Ax2 as an assay system for screening of pharmacological chaperones for phenylketonuria mutations." J Microbiol Biotechnol.
DOI: 10.4014/jmb.1412.12068

Cao, Y. Y., F. Song, T. Zhang, J. L. Bai, Y. W. Jin and H. Wang (2014). "Fast clinical molecular diagnosis of hyperphenylalaninemia using next-generation sequencing-based on a custom AmpliSeqTM panel and Ion Torrent PGM sequencing." Mol Genet Metab doi: 10.1016/j.ymgme.2014.10.004.

Wettstein, S., J. Underhaug, B. Perez, B. D. Marsden, W. W. Yue, A. Martinez and N. Blau (2014). "Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuria." Eur J Hum Genet DOI: 10.1038/ejhg.2014.114.
Blau, N., N. Shen and C. Carducci (2014). "Molecular genetics and diagnosis of phenylketonuria: state of the art." Exp Rev Mol Diagn: 14(6) 655-671

 

FREQUENTLY ACCESSED WEBSITES

AADC Research Trust

PND Association

The World of PKU

E.S.PKU

 

WEBSITE MANAGER

Nenad Blau
view personal profile

 

DATABASE MANAGER

view team profile

Database of PKU genotypes

Genotype-phenotype prediction

BH4 responsiveness prediction

[OPEN ACCESS/REGISTERED USER]


BH4 deficiencies and PND Locus-Specific Databases (former BIOMDB)

 

Link to BIODEF database

Link to JAKE database

[ OPEN ACCESS ]


Database of patients with PND

AADC defiiciency

TH deficiency

 

Link to BIOMDB database

[REGISTERED USER]


Database of BH4-deficient patients

Link to BIOMDB database

[OPEN ACCESS]