[Mucolipidosis Type II. STudy of 2 familial cases. Clinical and biochemical aspects].
D000015:Abnormalities, Multiple; D003025:Clubfoot; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007668:Kidney / Q000473:pathology; D017880:Limb Deformities, Congenital; D008099:Liver / Q000473:pathology; D008297:Male; D016532:Mucopolysaccharidosis II / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D009206:Myocardium / Q000473:pathology; D010018:Osteomalacia / Q000235:genetics; D011693:Purpura / Q000235:genetics; D012174:Retinitis Pigmentosa / Q000235:genetics; D012272:Ribs / Q000002:abnormalities; D012886:Skull / Q000002:abnormalities; D013131:Spine / Q000002:abnormalities; D013154:Spleen / Q000473:pathology
La mucolipidose type II. Etude de deux observations familiales. Aspects cliniques et biochimiques