Gardeitchik, Thatjana <br/><br/>
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.  [electronic resource] 

 -  European journal of human genetics : EJHG  Jul 2014 
 - 888-95 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1476-5438 
<br/><br/><label>Standard No.: </label>10.1038/ejhg.2013.154  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Agenesis of Corpus Callosum--diagnosis<br/>Aldehyde Dehydrogenase--genetics<br/>Carrier Proteins--genetics<br/>Child<br/>Child, Preschool<br/>Cutis Laxa--diagnosis<br/>Epilepsy--diagnosis<br/>Female<br/>Glycosylation<br/>Guanine Nucleotide Exchange Factors--genetics<br/>Humans<br/>Male<br/>Mitochondrial Proton-Translocating ATPases--genetics<br/>Prospective Studies<br/>Pyrroline Carboxylate Reductases--genetics<br/>delta-1-Pyrroline-5-Carboxylate Reductase