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Aromatic L-Amino Acid Decarboxylase Deficiency.
Blau N, Pearson TS, Kurian MA, Elsea SH. Blau N, et al. 2023 Oct 12 [updated 2025 Jan 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2023 Oct 12 [updated 2025 Jan 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 37824694 Free Books & Documents. 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: blau n. 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.
Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency.
Tokatly Latzer I, Bertoldi M, Blau N, DiBacco ML, Elsea SH, García-Cazorla À, Gibson KM, Gropman AL, Hanson E, Hoffman C, Jeltsch K, Juliá-Palacios N, Knerr I, Lee HHC, Malaspina P, McConnell A, Opladen T, Oppebøen M, Rotenberg A, Walterfang M, Wang-Tso L, Wevers RA, Roullet JB, Pearl PL. Tokatly Latzer I, et al. Among authors: blau n. Mol Genet Metab. 2024 May;142(1):108363. doi: 10.1016/j.ymgme.2024.108363. Epub 2024 Mar 4. Mol Genet Metab. 2024. PMID: 38452608
358 results