PAH BIODEF PND BIOPKU JAKEdb BH4 Literature Research

Databases

PAHvdb

BIODEFdb

PNDdb

BIOPKUdb

JAKEdb

General Information

PND

Literature

Research

Website Links

 

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.

Please note:
This website is undergoing some redevelopment.
There is no longer any requirement for registration and login.



Phanylalanine Hydroxylase Locus-Specific Database

3D structures

[ OPEN ACCESS ]

NEWS

No news at the moment

 

NEW PUBLICATIONS

Blau, N. (2016). "Genetics of Phenylketonuria: Then and Now." Hum Mutat 37(6): 508-15.

Aldamiz-Echevarria, L., M. Llarena, M. et al. (2016). "Molecular epidemiology, genotype-phenotype correlation and BH responsiveness in Spanish patients with phenylketonuria." J Hum Genet. online

 

Gemperle-Britschgi, C., D. Iorgulescu, M. A. Mager, D. Anton-Paduraru, R. Vulturar and B. Thony (2016). "A novel common large genomic deletion and two new missense mutations identified in the Romanian phenylketonuria population." Gene 576(1 Pt 1): 182-8.

 

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

[ CLOSED FOR MAINTENANCE ]


Database of BH4-deficient patients

Link to PND database

[ CLOSED FOR MAINTENANCE ]

 

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