BIODEF/BIOMDB Update

The BIODEF database of tetrahydrobiopterin (BH4) deficiencies and the BIOMDB mutations database are newly updated.


BIODEF

There are now 383 patients with different forms of BH4 deficiency registered in the database.
A major update of DHPR-deficient patients is now included.
An extended query search including up to three different clinical signs and symptoms is now possible.


BIOMDB

There are now 115 different mutations tabulated.
The information is accessible from the BH4 Home Page (www.unizh.ch/~blau/bh4.html).

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PD Dr. Nenad Blau
Division of Clinical Chemistry and Biochemistry
University Children's Hospital
Steinwiesstrasse 75
8032 Zurich
Switzerland
Tel.: +411 266 7544
Fax: +411 266 7169
E-mail: blau@kispi.unizh.ch
URL: http://www.unizh.ch/~blau/nblau.html

Message posted by: Frank S. Zollmann