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.


Phanylalanine Hydroxylase Locus-Specific Database (n=3370)

[ACCESS FOR REGISTERED USERS]

Database of PKU genotypes (n=23671)

Genotype-phenotype prediction

BH4 responsiveness prediction

[ CLOSED FOR MAINTENANCE ]


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

Link to BIODEF database

Link to JAKE database

[ACCESS FOR REGISTERED USERS]


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

[ACCESS FOR REGISTERED USERS]

Welcome to

BIOPKU Switzerland

 

The BIOPKU genotypes database is temporarily closed due to external evaluation, legal matters, and a potential domain transfer.

For diagnostic inquiries from genetic laboratories and institutions, please use the Excel form provided below:

Download Excel Form

Please send the completed form via email to info@biopku.org. Your request will be processed promptly, and you will receive the search results by email.

For external research projects conducted by academic institutions, please send all relevant information, including your affiliation, a description of the project, and details of the proposed collaboration, via email to info@biopku.org. Requests with insufficient information will not receive a response. Please ensure that you provide all necessary details in your inquiry.

For requests from the industry or pharmaceutical companies, please send an email to info@biopku.org and explain the exact purpose of your inquiry. We offer tailored genotype-phenotype analysis by BIOPKU Switzerland.

 

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