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Myoadenylate deaminase deficiency: Muscle biopsy and muscle culture in a patient with gout

โœ Scribed by Salvatore Dimauro; Armand F. Miranda; Arthur P. Hays; Walter A. Franck; Gary S. Hoffman; Richard S. Schoenfeldt; Naunihal Singh


Book ID
118929151
Publisher
Elsevier Science
Year
1980
Tongue
English
Weight
918 KB
Volume
47
Category
Article
ISSN
0022-510X

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Myoadenylate deaminase deficiency: absen
โœ Rudolf Mercelis; Jean-Jacques Martin; Thierry Barsy; Georges Berghe ๐Ÿ“‚ Article ๐Ÿ“… 1987 ๐Ÿ› Springer ๐ŸŒ English โš– 715 KB

A histochemical assay was routinely performed of myoadenylate deaminase (MAD) in muscle biopsy specimens. MAD was absent in 13 cases, i.e. 2.9% of the specimens. In 10 cases the deficiency was confirmed biochemically. The diagnoses in the 13 patients were: polyneuropathy (n = 5), infantile spinal mu