Carrozzo, Rosalba <br/><br/>
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.  [electronic resource] 

 -  Journal of inherited metabolic disease  Mar 2016 
 - 243-52 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1573-2665 
<br/><br/><label>Standard No.: </label>10.1007/s10545-015-9894-9  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Amino Acid Metabolism, Inborn Errors--genetics<br/>Amino Acid Sequence<br/>Child<br/>Child, Preschool<br/>Codon, Nonsense--genetics<br/>DNA Mutational Analysis--methods<br/>DNA, Mitochondrial--genetics<br/>Female<br/>Genotype<br/>Humans<br/>Infant<br/>Infant, Newborn<br/>Male<br/>Methylmalonic Acid--metabolism<br/>Mitochondrial Diseases--genetics<br/>Mitochondrial Encephalomyopathies--genetics<br/>Mutation, Missense--genetics<br/>Phenotype<br/>Succinate-CoA Ligases--genetics<br/>Young Adult