title: Juvenile Sandoff disease: report of an additional case with family studies.
mesh_terms: D002648:Child; D002675:Child, Preschool; D002852:Chromatography, Ion Exchange; D005260:Female; D005500:Follow-Up Studies; D006596:Hexosaminidases / Q000097:blood / Q000378:metabolism; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D012497:Sandhoff Disease / Q000201:enzymology / Q000235:genetics*; D012867:Skin / Q000201:enzymology
chemical_list: D006596:Hexosaminidases