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Phosphoglycerate mutase deficiency with tubular aggregates in a patient from panama |
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| Authors: | Johnny Salameh MD Namita Goyal MD Rabia Choudry MD Sandra Camelo‐Piragua MD Peter Siao Tick Chong MD |
| Affiliation: | 1. Department of Neurology University of Massachusetts Medical Center, 55 Lake Avenue North S5‐751, Worcester, Massachusetts 01605, USA;2. Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA;3. Department of the Neurosensory Sciences, Albert Einstein Medical Center, Philadelphia, Pennsylvania, USA;4. Department of Pathology, University of Michigan, Ann Arbor, Michigan, USA;5. Department of Neurology, Boston Medical Center, Boston, Massachusetts, USA |
| Abstract: | |
| Keywords: | CK elevation glycogen‐storage disease type X PGAM phosphoglycerate mutase tubular aggregates |