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Similar articles for PMID: 11597772

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Page 1
Glycine encephalopathy.
Bhumika S, Basalingappa KM, Gopenath TS, Basavaraju S. Bhumika S, et al. Egypt J Neurol Psychiatr Neurosurg. 2022;58(1):132. doi: 10.1186/s41983-022-00567-6. Epub 2022 Nov 17. Egypt J Neurol Psychiatr Neurosurg. 2022. PMID: 36415754 Free PMC article. Review.
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. Hum Mol Genet. 2023 Mar 6;32(6):917-933. doi: 10.1093/hmg/ddac246. Hum Mol Genet. 2023. PMID: 36190515 Free PMC article.
179 results