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A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement.
Jackson CB, Huemer M, Bolognini R, Martin F, Szinnai G, Donner BC, Richter U, Battersby BJ, Nuoffer JM, Suomalainen A, Schaller A. Jackson CB, et al. Among authors: huemer m. Hum Mol Genet. 2019 Feb 15;28(4):639-649. doi: 10.1093/hmg/ddy374. Hum Mol Genet. 2019. PMID: 30358850 Free article.
Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism.
Bösch F, Landolt MA, Baumgartner MR, Fernandez S, Forny P, Gautschi M, Grünert SC, Häberle J, Horvath C, Karall D, Lampis D, Rohrbach M, Scholl-Bürgi S, Szinnai G, Huemer M. Bösch F, et al. Among authors: huemer m. Mol Genet Metab Rep. 2022 May 6;31:100876. doi: 10.1016/j.ymgmr.2022.100876. eCollection 2022 Jun. Mol Genet Metab Rep. 2022. PMID: 35762020 Free PMC article.
Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency).
Lenherr N, Christodoulou J, Duley J, Dobritzsch D, Fairbanks L, Datta AN, Filges I, Gürtler N, Roelofsen J, van Kuilenburg ABP, Kemper C, West EE, Szinnai G, Huemer M. Lenherr N, et al. Among authors: huemer m. Mol Genet Metab Rep. 2021 Jan 20;26:100709. doi: 10.1016/j.ymgmr.2021.100709. eCollection 2021 Mar. Mol Genet Metab Rep. 2021. PMID: 33532242 Free PMC article.
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.
Gai X, Ghezzi D, Johnson MA, Biagosch CA, Shamseldin HE, Haack TB, Reyes A, Tsukikawa M, Sheldon CA, Srinivasan S, Gorza M, Kremer LS, Wieland T, Strom TM, Polyak E, Place E, Consugar M, Ostrovsky J, Vidoni S, Robinson AJ, Wong LJ, Sondheimer N, Salih MA, Al-Jishi E, Raab CP, Bean C, Furlan F, Parini R, Lamperti C, Mayr JA, Konstantopoulou V, Huemer M, Pierce EA, Meitinger T, Freisinger P, Sperl W, Prokisch H, Alkuraya FS, Falk MJ, Zeviani M. Gai X, et al. Among authors: huemer m. Am J Hum Genet. 2013 Sep 5;93(3):482-95. doi: 10.1016/j.ajhg.2013.07.016. Epub 2013 Aug 29. Am J Hum Genet. 2013. PMID: 23993194 Free PMC article.
Successful intrauterine treatment of a patient with cobalamin C defect.
Trefz FK, Scheible D, Frauendienst-Egger G, Huemer M, Suomala T, Fowler B, Haas D, Baumgartner MR. Trefz FK, et al. Among authors: huemer m. Mol Genet Metab Rep. 2016 Feb 4;6:55-9. doi: 10.1016/j.ymgmr.2016.01.005. eCollection 2016 Mar. Mol Genet Metab Rep. 2016. PMID: 27014578 Free PMC article.
Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism.
Zeltner NA, Baumgartner MR, Bondarenko A, Ensenauer R, Karall D, Kölker S, Mühlhausen C, Scholl-Bürgi S, Thimm E, Quitmann J, Burgard P, Landolt MA, Huemer M. Zeltner NA, et al. Among authors: huemer m. JIMD Rep. 2017;37:27-35. doi: 10.1007/8904_2017_11. Epub 2017 Mar 1. JIMD Rep. 2017. PMID: 28247338 Free PMC article.
217 results