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.

 


Phanylalanine Hydroxylase Locus-Specific Database

3D structures

[ OPEN ACCESS ]

NEWS

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NEW PUBLICATIONS

Muntau, A. C., A. Burlina, F. Eyskens, P. Freisinger, C. De Laet, V. Leuzzi, F. Rutsch, H. S. Sivri, S. Vijay, M. O. Bal, G. Gramer, R. Pazdirkova, M. Cleary, A. S. Lotz-Havla, A. Munafo, D. R. Mould, F. Moreau-Stucker and D. Rogoff (2017). "Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial." Orphanet J Rare Dis 12(1): 47. https://www.ncbi.nlm.nih.gov/pubmed/28274234

 

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

[OPEN ACCESS]


Database of BH4-deficient patients

Link to PND database

[ CLOSED FOR MAINTENANCE ]

 

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