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Myoadenylate deaminase deficiency and forearm ischemic exercise testing

โœ Scribed by Peter A. Valen; Denny A. Nakayama; Judith Veum; A. R. Sulaiman; Robert L. Wortmann

Book ID
102750338
Publisher
John Wiley and Sons
Year
1987
Tongue
English
Weight
722 KB
Volume
30
Category
Article
ISSN
0004-3591

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๐Ÿ“œ SIMILAR VOLUMES

Myoadenylate deaminase deficiency
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Genetic characteristics of myoadenylate deaminase deficiency
โœ H. T. F. M. Verzijl; Dr. B. G. M. van Engelen; J. A. F. M. Luyten; G. C. H. Stee ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 663 KB

Two types of myoadenylate deaminase (MAD) deficiency have been described, primary or inherited, and secondary or acquired MAD deficiency. In this study, we investigated whether secondary MAD deficiency is indeed acquired or merely coincidental. We demonstrated the same underlying molecular defect, a

Myoadenylate deaminase deficiency: absen
Myoadenylate deaminase deficiency: absence of correlation with exercise intolerance in 452 muscle biopsies
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