Frézal, J <br/><br/>
Maple syrup urine disease: two different forms within a single family.  [electronic resource] 

 -  Human genetics  1985 
 - 89-91 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>0340-6717 
<br/><br/><label>Standard No.: </label>10.1007/BF00295676  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Child<br/>Decarboxylation<br/>Female<br/>Fibroblasts--metabolism<br/>Genetic Variation<br/>Heterozygote<br/>Humans<br/>Leucine--metabolism<br/>Male<br/>Maple Syrup Urine Disease--genetics<br/>Pedigree