Mühl, A <br/><br/>
Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation.  [electronic resource] 

 -  European journal of human genetics : EJHG  Apr 2001 
 - 237-43 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1018-4813 
<br/><br/><label>Standard No.: </label>10.1038/sj.ejhg.5200620  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amidohydrolases--deficiency<br/>Automation<br/>Biotinidase<br/>Electrophoresis, Polyacrylamide Gel--methods<br/>Humans<br/>Infant, Newborn<br/>Mutation<br/>Neonatal Screening<br/>Sequence Analysis, DNA