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Author/Creator Gutierrez, Edgar

3. Recognition of a novel variant of phosphoglycerate kinase 1 deficiency PGK1 Galveston (c.472G > C) in a child with hemolytic anemia, neurologic dysfunction and myopathy. (2nd January 2023)

Authors:
Gutierrez, Edgar; Bayes, Mathew G.; Mallick, Jayati; Dell'osso, Liesel; Lyapichev, Kirill A.; Muthukumar, Akila
Journal:
Pediatric hematology and oncology
Issue:
Volume 40:Number 1(2023)
Page Start:
76
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. Tau/MAPT disease-associated variant A152T alters tau function and toxicity via impaired retrograde axonal transport. (26th December 2018)

Authors:
Butler, Victoria J; Salazar, Dominique A; Soriano-Castell, David; Alves-Ferreira, Miguel; Dennissen, Frank J A; Vohra, Mihir; Oses-Prieto, Juan A; Li, Kathy H; Wang, Austin L; Jing, Beibei; Li, Biao; Groisman, Alex; Gutierrez, Edgar; Mooney, Sean; Burlingame, Alma L; Ashrafi, Kaveh; Mandelkow, Ev...
Journal:
Human molecular genetics
Issue:
Volume 28:Number 9(2019)
Page Start:
1498
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗