SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation - Park, Julien H.; Hogrebe, Max; Grüneberg, Marianne; DuChesne, Ingrid; von der Heiden, Ava L.; Reunert, Janine; Schlingmann, Karl P.; Boycott, Kym M.; Beaulieu, Chandree L.; Mhanni, Aziz A.; Innes, A. Micheil; Hörtnagel, Konstanze; et al. (American journal of human genetics, 2015)
Keywords: Amino Acid Sequence; Biosynthesis; Carbohydrate Sequence; Cation Transport Proteins - deficiency; Cation Transport Proteins - genetics; Cations, Divalent; Congenital diseases; Congenital Disorders of Glycosylation - blood; Congenital Disorders of Glycosylation - complications; Congenital Disorders of Glycosylation - diet therapy; Congenital Disorders of Glycosylation - genetics; Dwarfism; Dwarfism - blood; Dwarfism - complications; Dwarfism - diet therapy; Dwarfism - genetics; Enzymes; Female; Galactose - therapeutic use; Gene Expression; Glycoproteins; Glycosylation; High-Throughput Nucleotide Sequencing; Humans; Infant; Ion Transport; Manganese - blood; Manganese - deficiency; Molecular Sequence Data; Mutation; Pedigree; Sequence Alignment; Spasms, Infantile - blood; Spasms, Infantile - complications; Spasms, Infantile - diet therapy; Spasms, Infantile - genetics