PAH BIODEF PND 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.

Please note:
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

Anikster, Y., et al.(2017). "Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability." Am J Hum Genet. https://www.ncbi.nlm.nih.gov/pubmed/28132689


van Spronsen, F. J., et al. (2017). "Key European guidelines for the diagnosis and management of patients with phenylketonuria." Lancet Diabetes Endocrinol. https://www.ncbi.nlm.nih.gov/pubmed/28082082

 

Pan, Y., N. Shen, S. Jung-Klawitter, C. Betzen, G. F. Hoffmann, J. D. Hoheisel and N. Blau (2016). "CRISPR RNA-guided FokI nucleases repair a PAH variant in a phenylketonuria model." Sci Rep 6: 35794.https://www.ncbi.nlm.nih.gov/pubmed/2778618

 

Trunzo, R., R. Santacroce, N. Shen, S. Jung-Klawitter, A. Leccese, G. De Girolamo, M. Margaglione and N. Blau (2016). "In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU." Gene 594: 138-143. https://www.ncbi.nlm.nih.gov/pubmed/27620137

 

Blau, N. (2016). "Genetics of Phenylketonuria: Then and Now." Hum Mutat 37(6): 508-15.http://www.ncbi.nlm.nih.gov/pubmed/26919687

 

 

 

FREQUENTLY ACCESSED WEBSITES

AADC Research Trust

PND Association

The World of PKU

E.S.PKU

 

WEBSITE MANAGER

Nenad Blau
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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

[REGISTERED USER]


Database of BH4-deficient patients

Link to PND database

[ CLOSED FOR MAINTENANCE ]

 

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