Okuyaz, Cetin <br/><br/>
Severe infantile hypotonia with ethylmalonic aciduria: case report.  [electronic resource] 

 -  Journal of child neurology  Jun 2008 
 - 703-5 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>0883-0738 
<br/><br/><label>Standard No.: </label>10.1177/0883073807313048  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Alleles<br/>Butyryl-CoA Dehydrogenase--deficiency<br/>DNA Mutational Analysis<br/>Developmental Disabilities--diagnosis<br/>Diagnosis, Differential<br/>Female<br/>Genotype<br/>Humans<br/>Infant<br/>Lipid Metabolism, Inborn Errors--diagnosis<br/>Malonates--urine<br/>Muscle Hypotonia--diagnosis<br/>Muscle Weakness--diagnosis<br/>Neurologic Examination<br/>Phenotype<br/>Polymorphism, Genetic--genetics