Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002986 (Fabry)
 5,646 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The oral lesions in two previously reported cases of fucosidosis are discussed. The patients have coarse facies, severe mental retardation, spondyloepiphyseal dysplasia, deficiency of a-L-fucosidase, and red punctate lesions of the skin and oral mucosa. Gingival biopsy specimens showed that these lesions were identical to the angiokeratoma corporis diffusum reported in Fabry's disease, but had different locations. Because of the slowly progressing psychomotor retardation and recurrent upper respiratory tract infections that the prognosis for patients with this disease is poor. Treatment appears to be aimed at early diagnosis through amniocentesis.
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PMID:Oral lesions in fucosidosis. 81 38