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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2013 1
2014 1
2019 2
2020 4
2021 1
2022 3
2024 0

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11 results

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Page 1
A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT.
Katler QS, Stepien KM, Paull N, Patel S, Adams M, Balci MC, Berry GT, Bosch AM, DeLaO A, Demirbas D, Edman J, Ficicioglu C, Goff M, Hacker S, Knerr I, Lancaster K, Li H, Mendelsohn BA, Nichols B, de Rezende Pinto WBV, Rocha JC, Rubio-Gozalbo ME, Saad-Naguib M, Scholl-Buergi S, Searcy S, de Souza PVS, Wittenauer A, Fridovich-Keil JL. Katler QS, et al. Among authors: wittenauer a. J Inherit Metab Dis. 2022 Nov;45(6):1106-1117. doi: 10.1002/jimd.12556. Epub 2022 Sep 26. J Inherit Metab Dis. 2022. PMID: 36093991 Free PMC article.
Developmental outcomes of children with Duarte galactosemia: exploring the bases of an apparent contradiction in the literature.
Fridovich-Keil JL, Carlock G, Coles CD, Lynch ME, Millians MN, Potter NL, Powell K, Richards P, Singh R, Wittenauer A. Fridovich-Keil JL, et al. Among authors: wittenauer a. Genet Med. 2019 Dec;21(12):2683-2685. doi: 10.1038/s41436-019-0567-1. Epub 2019 Jun 4. Genet Med. 2019. PMID: 31160755 Free article. No abstract available.
Increased parental anxiety and a benign clinical course: Infants identified with short-chain acyl-CoA dehydrogenase deficiency and isobutyryl-CoA dehydrogenase deficiency through newborn screening in Georgia.
Sadat R, Hall PL, Wittenauer AL, Vengoechea ED, Park K, Hagar AF, Singh R, Moore RH, Gambello MJ. Sadat R, et al. Among authors: wittenauer al. Mol Genet Metab. 2020 Jan;129(1):20-25. doi: 10.1016/j.ymgme.2019.11.008. Epub 2019 Nov 27. Mol Genet Metab. 2020. PMID: 31813752
11 results