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Page 1
Ex vivo proton spectroscopy (1 H-NMR) analysis of inborn errors of metabolism: Automatic and computer-assisted analyses.
NMR Biomed. 2023 Apr;36(4):e4853. doi: 10.1002/nbm.4853. Epub 2022 Nov 16.
NMR Biomed. 2023.
PMID: 36264537
Review.
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.
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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.
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Long-term treatment of patients with mild and classical phenylketonuria by tetrahydrobiopterin.
Trefz FK, Scheible D, Frauendienst-Egger G, Korall H, Blau N.
Trefz FK, et al. Among authors: frauendienst egger g.
Mol Genet Metab. 2005 Dec;86 Suppl 1:S75-80. doi: 10.1016/j.ymgme.2005.06.026. Epub 2005 Oct 20.
Mol Genet Metab. 2005.
PMID: 16242984
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Monitoring of 4-hydroxybutyric acid levels in body fluids during vigabatrin treatment in succinic semialdehyde dehydrogenase deficiency.
Ergezinger K, Jeschke R, Frauendienst-Egger G, Korall H, Gibson KM, Schuster VH.
Ergezinger K, et al. Among authors: frauendienst egger g.
Ann Neurol. 2003 Nov;54(5):686-9. doi: 10.1002/ana.10752.
Ann Neurol. 2003.
PMID: 14595661
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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.
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