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Does hyperphenylalaninemia induce brain glucose hypometabolism? Cerebral spinal fluid findings in treated adult phenylketonuric patients.
Trefz F, Frauendienst-Egger G, Dienel G, Cannet C, Schmidt-Mader B, Haas D, Blau N, Himmelreich N, Spraul M, Freisinger P, Dobrowolski S, Berg D, Pilotto A. Trefz F, et al. Among authors: frauendienst egger g. Mol Genet Metab. 2024 May;142(1):108464. doi: 10.1016/j.ymgme.2024.108464. Epub 2024 Mar 23. Mol Genet Metab. 2024. PMID: 38537426 Free 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: frauendienst egger g. 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.
Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo 1H-NMR Analysis.
Cannet C, Bayat A, Frauendienst-Egger G, Freisinger P, Spraul M, Himmelreich N, Kockaya M, Ahring K, Godejohann M, MacDonald A, Trefz F. Cannet C, et al. Among authors: frauendienst egger g. Molecules. 2023 Jun 22;28(13):4916. doi: 10.3390/molecules28134916. Molecules. 2023. PMID: 37446577 Free PMC article.