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Journal of Hepatology|July 5, 2014
Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiencyVassili Valayannopoulos, Vera Malinova, Tomas Honzík, et al.The Journal of Clinical Investigation|December 4, 2019
Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disabilityLin Li, Mohammad Ghorbani, Monika Weisz-Hubshman, et al.EMBO Molecular Medicine|November 9, 2021
Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypesSilvia Vidali, Raffaele Gerlini, Kyle Thompson, et al.Nature Genetics|May 24, 2016
NANS-mediated synthesis of sialic acid is required for brain and skeletal developmentClara D M van Karnebeek, Luisa Bonafé, Xiao-Yan Wen, et al.Pageof 5