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.



Phanylalanine Hydroxylase Locus-Specific Database
[ OPEN ACCESS ]

NEW PUBLICATIONS

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: DOI: 10.1586/14737159.2014.923760.

 

FREQUENTLY ACCESSED WEBSITES

AADC Research Trust

PND Association

The World of PKU

E.S.PKU

 

WEBSITE MANAGER

Prof. Nenad Blau
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DATABASE MANAGER

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Database of BH4-deficient patients

[UNDER EMBARGO]


BH4 deficiencies and PND Locus-Specific Database
[ OPEN ACCESS ]


Database of patients with PND (currently AADC def.)


Database of PKU genotypes
[ OPEN ACCESS ]