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)

Fifteen patients with lysosomal storage diseases were studied. Diagnoses of their illnesses included infantile Gaucher disease; Krabbe disease; Niemann-Pick disease, type A; glycogen storage disease, type 3; Fabry disease, Jansky-Bielschowsky and Spielmeyer-Vogt types of amaurotic idiocy, GM1 gangliosidosis, type 1; Hurler disease; and Sanfilippo disease, types A and B. We carried out ultrastructural examinations of skin biopsy specimens that were taken to establish a cultured fibroblast line on each patient. We found diagnostic storage inclusions in all patients except those with infantile Gaucher disease, Krabbe disease, and Spielmeyer-Vogt disease, This technique can be carried out on a specimen obtained by a primary physician on an out-patient basis, thus avoiding major surgery.
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PMID:Lysosomal storage disorders. Diagnosis by ultrastructural examination of skin biopsy specimens. 80 24