Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation.

Matthew A Lines,C. Rupar,J. Rip,B. Baskin,Peter N. Ray,R. A. Hegele,D. Grynspan,J. Michaud,Michael T. Geraghty

Published 2014 in JIMD Reports

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