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Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.
Arribas-Carreira L, Dallabona C, Swanson MA, Farris J, Østergaard E, Tsiakas K, Hempel M, Aquaviva-Bourdain C, Koutsoukos S, Stence NV, Magistrati M, Spector EB, Kronquist K, Christensen M, Karstensen HG, Feichtinger RG, Achleitner MT, Lawrence Merritt Ii J, Pérez B, Ugarte M, Grünewald S, Riela AR, Julve N, Arnoux JB, Haldar K, Donnini C, Santer R, Lund AM, Mayr JA, Rodriguez-Pombo P, Van Hove JLK. Arribas-Carreira L, et al. Among authors: christensen m. Hum Mol Genet. 2023 Mar 6;32(6):917-933. doi: 10.1093/hmg/ddac246. Hum Mol Genet. 2023. PMID: 36190515 Free PMC article.
CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria.
Saunders C, Smith L, Wibrand F, Ravn K, Bross P, Thiffault I, Christensen M, Atherton A, Farrow E, Miller N, Kingsmore SF, Ostergaard E. Saunders C, et al. Among authors: christensen m. Am J Hum Genet. 2015 Feb 5;96(2):258-65. doi: 10.1016/j.ajhg.2014.12.020. Epub 2015 Jan 15. Am J Hum Genet. 2015. PMID: 25597511 Free PMC article.
Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland--experience and development of a routine program for expanded newborn screening.
Lund AM, Hougaard DM, Simonsen H, Andresen BS, Christensen M, Dunø M, Skogstrand K, Olsen RK, Jensen UG, Cohen A, Larsen N, Saugmann-Jensen P, Gregersen N, Brandt NJ, Christensen E, Skovby F, Nørgaard-Pedersen B. Lund AM, et al. Among authors: christensen m, christensen e. Mol Genet Metab. 2012 Nov;107(3):281-93. doi: 10.1016/j.ymgme.2012.06.006. Epub 2012 Jun 21. Mol Genet Metab. 2012. PMID: 22795865
Hyperglucagonemia correlates with plasma levels of non-branched-chain amino acids in patients with liver disease independent of type 2 diabetes.
Wewer Albrechtsen NJ, Junker AE, Christensen M, Hædersdal S, Wibrand F, Lund AM, Galsgaard KD, Holst JJ, Knop FK, Vilsbøll T. Wewer Albrechtsen NJ, et al. Among authors: christensen m. Am J Physiol Gastrointest Liver Physiol. 2018 Jan 1;314(1):G91-G96. doi: 10.1152/ajpgi.00216.2017. Epub 2017 Sep 28. Am J Physiol Gastrointest Liver Physiol. 2018. PMID: 28971838 Free article.
The effect of casein glycomacropeptide versus free synthetic amino acids for early treatment of phenylketonuria in a mice model.
Ahring KK, Dagnæs-Hansen F, Brüel A, Christensen M, Jensen E, Jensen TG, Johannsen M, Johansen KS, Lund AM, Madsen JG, Brøndum-Nielsen K, Pedersen M, Sørensen LK, Kjolby M, Møller LB. Ahring KK, et al. Among authors: christensen m. PLoS One. 2022 Jan 11;17(1):e0261150. doi: 10.1371/journal.pone.0261150. eCollection 2022. PLoS One. 2022. PMID: 35015767 Free PMC article.
2,291 results