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

Year Number of Results
1968 1
1975 1
1978 1
1980 3
1981 1
1983 5
1984 2
1985 1
1986 3
1987 1
1988 1
1989 1
1990 2
1991 2
1992 1
1994 1
1996 1
1997 1
1998 8
1999 8
2000 6
2001 1
2002 1
2003 2
2006 1
2019 2
2020 4
2021 2
2024 1

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PubMed (OMIM) for id: 2542

63 results

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Page 1
Treatment recommendations for glycogen storage disease type IB- associated neutropenia and neutrophil dysfunction with empagliflozin: Consensus from an international workshop.
Grünert SC, Derks TGJ, Mundy H, Dalton RN, Donadieu J, Hofbauer P, Jones N, Uçar SK, LaFreniere J, Contreras EL, Pendyal S, Rossi A, Schneider B, Spiegel R, Stepien KM, Wesol-Kucharska D, Veiga-da-Cunha M, Wortmann SB. Grünert SC, et al. Mol Genet Metab. 2024 Mar;141(3):108144. doi: 10.1016/j.ymgme.2024.108144. Epub 2024 Jan 17. Mol Genet Metab. 2024. PMID: 38277989 Free article. Review.
A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction.
Ng BG, Sosicka P, Fenaille F, Harroche A, Vuillaumier-Barrot S, Porterfield M, Xia ZJ, Wagner S, Bamshad MJ, Vergnes-Boiteux MC, Cholet S, Dalton S, Dell A, Dupré T, Fiore M, Haslam SM, Huguenin Y, Kumagai T, Kulik M, McGoogan K, Michot C, Nickerson DA, Pascreau T, Borgel D, Raymond K, Warad D; University of Washington Center for Mendelian Genomics (UW-CMG); Flanagan-Steet H, Steet R, Tiemeyer M, Seta N, Bruneel A, Freeze HH. Ng BG, et al. Am J Hum Genet. 2021 Jun 3;108(6):1040-1052. doi: 10.1016/j.ajhg.2021.04.013. Epub 2021 May 7. Am J Hum Genet. 2021. PMID: 33964207 Free PMC article.
SLC37A4-CDG: Second patient.
Wilson MP, Quelhas D, Leão-Teles E, Sturiale L, Rymen D, Keldermans L, Race V, Souche E, Rodrigues E, Campos T, Van Schaftingen E, Foulquier F, Garozzo D, Matthijs G, Jaeken J. Wilson MP, et al. JIMD Rep. 2021 Jan 6;58(1):122-128. doi: 10.1002/jmd2.12195. eCollection 2021 Mar. JIMD Rep. 2021. PMID: 33728255 Free PMC article.
63 results