Studies on the pathogenesis of observed cases of the Louis-Bar syndrome.
D000293:Adolescent; D000361:Agammaglobulinemia / Q000150:complications*; D001260:Ataxia Telangiectasia / Q000209:etiology* / Q000235:genetics / Q000473:pathology; D002239:Carbohydrate Metabolism, Inborn Errors; D002648:Child; D005260:Female; D006025:Glycosaminoglycans / Q000378:metabolism* / Q000652:urine; D006651:Histocytochemistry; D006801:Humans; D007122:Immunoelectrophoresis; D007223:Infant; D007231:Infant, Newborn; D008099:Liver / Q000473:pathology; D008297:Male; D009461:Neurologic Manifestations; D012140:Respiratory Tract Diseases / Q000150:complications
D006025:Glycosaminoglycans