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Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias.
J Inherit Metab Dis. 2024 Apr 2. doi: 10.1002/jimd.12731. Online ahead of print.
J Inherit Metab Dis. 2024.
PMID: 38563533
Newborn screening for aromatic l-amino acid decarboxylase deficiency - Strategies, results, and implication for prevalence calculations.
Reischl-Hajiabadi AT, Okun JG, Kohlmüller D, Manukjan G, Hegert S, Durner J, Schuhmann E, Hörster F, Mütze U, Feyh P, Hoffmann GF, Röschinger W, Janzen N, Opladen T.
Reischl-Hajiabadi AT, et al.
Mol Genet Metab. 2024 Mar;141(3):108148. doi: 10.1016/j.ymgme.2024.108148. Epub 2024 Jan 31.
Mol Genet Metab. 2024.
PMID: 38302374
Free article.
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Maternal Vitamin B12 Deficiency Detected by Newborn Screening-Evaluation of Causes and Characteristics.
Reischl-Hajiabadi AT, Garbade SF, Feyh P, Weiss KH, Mütze U, Kölker S, Hoffmann GF, Gramer G.
Reischl-Hajiabadi AT, et al.
Nutrients. 2022 Sep 13;14(18):3767. doi: 10.3390/nu14183767.
Nutrients. 2022.
PMID: 36145143
Free PMC article.
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