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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: szinnai g. 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.
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: szinnai g. Hum Mol Genet. 2019 Feb 15;28(4):639-649. doi: 10.1093/hmg/ddy374. Hum Mol Genet. 2019. PMID: 30358850 Free 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: szinnai g. 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.
Clinical case seminar in pediatric thyroid disease.
Szinnai G, Léger J, Bauer AJ, Pearce EN, Ramos HE, Canalli MH, Onigata K, Elisei R, Radetti G, Polak M, Van Vliet G, Deladoëy J. Szinnai G, et al. Endocr Dev. 2014;26:214-44. doi: 10.1159/000363166. Epub 2014 Aug 29. Endocr Dev. 2014. PMID: 25231455
78 results