Geleophysic dwarfism--a "focal" mucopolysaccharidosis?
D001706:Biopsy; D002239:Carbohydrate Metabolism, Inborn Errors; D002648:Child; D002675:Child, Preschool; D002855:Chromatography, Thin Layer; D004392:Dwarfism; D005260:Female; D005808:Genes, Recessive; D006025:Glycosaminoglycans / Q000378:metabolism* / Q000652:urine; D006529:Hepatomegaly / Q000503:physiopathology; D006801:Humans; D008099:Liver / Q000378:metabolism / Q000473:pathology; D008297:Male; D008854:Microscopy, Electron; D010641:Phenotype; D012141:Respiratory Tract Infections / Q000378:metabolism
D006025:Glycosaminoglycans