PAH BIODEF PND BIOPKU JAKEdb BH4 Literature Research

BIOPKUdb : Database of Patients and Genotypes Causing HPA/PKU incl. BH4-Responsive Phenotype

 

 

 

 

Data Submission Form

BIOPKU submission form (MS EXCEL)

 

Current number of records:

10373 PKU patients

9568 full genotypes

(as of March 18, 2017)

 

DATABASE MANAGERS

Nenad Blau, Heidelberg, Germany

Wyatt Yue, Oxford, UK

Belen Perez, Madrid, Spain

 

CONSORTIUM MEMBERS

Alberto Burlina
Division of inborn errors of metabolism
Padua, italy

Lenka Fajkusova
Centre of Molecular Biology and Gene Therapy
Brno, Czech Republic

Jaimie Higgs
GeneDx
Gaithersburg, USA

John Mitchell
Montreal Children's Hospital
Montreal, Canada

Emil Polák
Department of Molecular Biology, Faculty of Natural Sciences, Comenius University
Bratislava, Slovakia