[Disorders of amino acids metabolism in Marinesco-Sjögren syndrom].
D000293:Adolescent; D000596:Amino Acids / Q000097:blood* / Q000652:urine; D001259:Ataxia / Q000150:complications*; D002386:Cataract / Q000150:complications*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications*; D008297:Male
D000596:Amino Acids
Störungen des Aminosäurenstoffwechsels beim Marinesco-Sjögren-Syndrom.