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Author/Creator Perreault, John

2. Elevated oxysterol and N‐palmitoyl‐O‐phosphocholineserine levels in congenital disorders of glycosylation. Issue 2 (3rd February 2023)

Authors:
Dang Do, An N.; Chang, Irene J.; Jiang, Xutian; Wolfe, Lynne A.; Ng, Bobby G.; Lam, Christina; Schnur, Rhonda E.; Allis, Katrina; Hansikova, Hana; Ondruskova, Nina; O'Connor, Shawn D.; Sanchez‐Valle, Amarilis; Vollo, Arve; Wang, Raymond Y.; Wolfenson, Zoe; Perreault, John; Ory, Daniel S.; Freeze,...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 46:Issue 2(2023)
Page Start:
326
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Identification of an Alu element‐mediated deletion in the promoter region of GNE in siblings with GNE myopathy. Issue 4 (14th June 2017)

Authors:
Garland, Jennifer; Stephen, Joshi; Class, Bradley; Gruber, Angela; Ciccone, Carla; Poliak, Aaron; Hayes, Christina P.; Singhal, Vandana; Slota, Christina; Perreault, John; Gavrilova, Ralitza; Shrader, Joseph A.; Chittiboina, Prashant; Joe, Galen; Heiss, John; Gahl, William A.; Huizing, Marjan; Ca...
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 5:Issue 4(2017)
Page Start:
410
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗