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Author/Creator Akman, H. Orhan

1. A double‐blind, placebo‐controlled trial of triheptanoin in adult polyglucosan body disease and open‐label, long‐term outcome. Issue 5 (6th November 2017)

Authors:
Schiffmann, Raphael; Wallace, Mary E.; Rinaldi, Daisy; Ledoux, Isabelle; Luton, Marie‐Pierre; Coleman, Scott; Akman, H. Orhan; Martin, Karine; Hogrel, Jean‐Yves; Blankenship, Derek; Turner, Jacob; Mochel, Fanny
Journal:
Journal of inherited metabolic disease
Issue:
Volume 41:Issue 5(2018)
Page Start:
877
Record Type:
Journal Article
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2. A new muscle glycogen storage disease associated with glycogenin‐1 deficiency. Issue 6 (31st October 2014)

Authors:
Malfatti, Edoardo; Nilsson, Johanna; Hedberg‐Oldfors, Carola; Hernandez‐Lain, Aurelio; Michel, Fabrice; Dominguez‐Gonzalez, Cristina; Viennet, Gabriel; Akman, H. Orhan; Kornblum, Cornelia; Van den Bergh, Peter; Romero, Norma B.; Engel, Andrew G.; DiMauro, Salvatore; Oldfors, Anders
Journal:
Annals of neurology
Issue:
Volume 76:Issue 6(2014:Dec.)
Page Start:
891
Record Type:
Journal Article
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3. A Novel Mutation in the Mitochondrial DNA Cytochrome b Gene (MTCYB) in a Patient With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes Syndrome. (February 2013)

Authors:
Emmanuele, Valentina; Sotiriou, Evangelia; Rios, Purificación Gutierrez; Ganesh, Jaya; Ichord, Rebecca; Foley, A. Reghan; Akman, H. Orhan; DiMauro, Salvatore
Journal:
Journal of child neurology
Issue:
Volume 28:Number 2(2013)
Page Start:
236
Record Type:
Journal Article
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4. GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease. Issue 11 (9th October 2020)

Authors:
Chown, Erin E.; Wang, Peixiang; Zhao, Xiaochu; Crowder, Justin J.; Strober, Jordan W.; Sullivan, Mitchell A.; Xue, Yunlin; Bennett, Cody S.; Perri, Ami M.; Evers, Bret M.; Roach, Peter J.; Depaoli‐Roach, Anna A.; Akman, H. Orhan; Pederson, Bartholomew A.; Minassian, Berge A.
Journal:
Annals of clinical and translational neurology
Issue:
Volume 7:Issue 11(2020)
Page Start:
2186
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗