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Kidney urinary biomarkers in patients with branched-chain amino acid and cobalamin metabolism defects.
J Inherit Metab Dis. 2023 Nov;46(6):1078-1088. doi: 10.1002/jimd.12672. Epub 2023 Aug 29.
J Inherit Metab Dis. 2023.
PMID: 37603032
Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC-MS/MS analysis platform.
Klinke G, Richter S, Monostori P, Schmidt-Mader B, García-Cazorla A, Artuch R, Christ S, Opladen T, Hoffmann GF, Blau N, Okun JG.
Klinke G, et al. Among authors: schmidt mader b.
J Inherit Metab Dis. 2020 Jul;43(4):712-725. doi: 10.1002/jimd.12213. Epub 2020 Jan 23.
J Inherit Metab Dis. 2020.
PMID: 31930732
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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: schmidt mader b.
Mol Genet Metab. 2024 Mar 23;142(1):108464. doi: 10.1016/j.ymgme.2024.108464. Online ahead of print.
Mol Genet Metab. 2024.
PMID: 38537426
Free article.
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