BLOOD-BASED DIAGNOSTIC TESTING FOR POMPE DISEASE: CONSISTENCY BETWEEN GAA ENZYME ACTIVITY IN DRIED BLOOD SPOTS AND GAA GENE SEQUENCING RESULTS

Aydinlar E., Rolfs A., SERTESER M., Parman Y.

MUSCLE & NERVE, vol.49, no.5, pp.775-776, 2014 (SCI-Expanded, Scopus)

• Publication Type: Article / Letter
• Volume: 49 Issue: 5
• Publication Date: 2014
• Doi Number: 10.1002/mus.24149
• Journal Name: MUSCLE & NERVE
• Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
• Page Numbers: pp.775-776
• Acibadem Mehmet Ali Aydinlar University Affiliated: Yes