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Clinical Biochemistry|December 15, 2015
A novel mutation on the transferrin gene abolishes one N-glycosylation site and alters the pattern of transferrin isoforms, mimicking that observed after excessive alcohol consumptionAmmi Grahn, Per Bengtson, Erik Eklund, et al.
World Journal of Hepatology|September 26, 2022
Hemorrhagic colitis induced by trientine in a 51-year-old patient with Wilson's disease waiting for liver transplantation: A case reportAndreas Schult, Matts Andersson, Jorge Asin-Cayuela, et al.
Journal of Medical Case Reports|August 9, 2017
Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case reportMaria Blomqvist, Karin Ahlberg, Julia Lindgren, et al.
European Journal of Human Genetics : EJHG|February 28, 2018
γ-glutamyl transpeptidase deficiency caused by a large homozygous intragenic deletion in GGT1Niklas Darin, Karin Leckström, Per Sikora, et al.
Biochimica Et Biophysica Acta|April 16, 2009
MTERF2 is a nucleoid component in mammalian mitochondriaMina Pellegrini, Jorge Asin-Cayuela, Hediye Erdjument-Bromage, et al.
Cold Spring Harbor Molecular Case Studies|March 20, 2019
β-Mannosidosis caused by a novel homozygous intragenic inverted duplication in MANBAMaria Blomqvist, Marie Falkenberg Smeland, Julia Lindgren, et al.
Molecular Genetics & Genomic Medicine|January 29, 2015
Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndromeKalliopi Sofou, Gittan Kollberg, Maria Holmström, et al.
Mitochondrion|January 24, 2015
Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1Kristoffer Björkman, Kalliopi Sofou, Niklas Darin, et al.
JIMD Reports|September 9, 2016
Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic CounsellingSabine Grønborg, Niklas Darin, Maria J Miranda, et al.
Frontiers in Genetics|February 24, 2015
Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylationLiliya Euro, Svetlana Konovalova, Jorge Asin-Cayuela, et al.
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