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

Year Number of Results
1965 1
1972 1
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1977 1
1979 2
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1983 4
1986 3
1988 1
1993 1
1995 1
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1999 2
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PubMed (OMIM) for id: 2582

32 results

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Page 1
Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis.
Marín-Quílez A, Di Buduo CA, Díaz-Ajenjo L, Abbonante V, Vuelta E, Soprano PM, Miguel-García C, Santos-Mínguez S, Serramito-Gómez I, Ruiz-Sala P, Peñarrubia MJ, Pardal E, Hernández-Rivas JM, González-Porras JR, García-Tuñón I, Benito R, Rivera J, Balduini A, Bastida JM. Marín-Quílez A, et al. Blood. 2023 Jan 26;141(4):406-421. doi: 10.1182/blood.2022016995. Blood. 2023. PMID: 36395340 Free PMC article.
Expansion of the clinical phenotype of GALE deficiency.
Markovitz R, Owen N, Satter LF, Kirk S, Mahoney DH, Bertuch AA, Scaglia F. Markovitz R, et al. Am J Med Genet A. 2021 Oct;185(10):3118-3121. doi: 10.1002/ajmg.a.62384. Epub 2021 Jun 22. Am J Med Genet A. 2021. PMID: 34159722
A Case of UDP-Galactose 4'-Epimerase Deficiency Associated with Dyshematopoiesis and Atrioventricular Valve Malformations: An Exceptional Clinical Phenotype Explained by Altered N-Glycosylation with Relative Preservation of the Leloir Pathway.
Febres-Aldana CA, Pelaez L, Wright MS, Maher OM, Febres-Aldana AJ, Sasaki J, Jayakar P, Jayakar A, Diaz-Barbosa M, Janvier M, Totapally B, Salyakina D, Galvez-Silva JR. Febres-Aldana CA, et al. Mol Syndromol. 2020 Dec;11(5-6):320-329. doi: 10.1159/000511343. Epub 2020 Oct 29. Mol Syndromol. 2020. PMID: 33510604 Free PMC article.
Epimerase-deficiency galactosemia is not a binary condition.
Openo KK, Schulz JM, Vargas CA, Orton CS, Epstein MP, Schnur RE, Scaglia F, Berry GT, Gottesman GS, Ficicioglu C, Slonim AE, Schroer RJ, Yu C, Rangel VE, Keenan J, Lamance K, Fridovich-Keil JL. Openo KK, et al. Am J Hum Genet. 2006 Jan;78(1):89-102. doi: 10.1086/498985. Epub 2005 Nov 14. Am J Hum Genet. 2006. PMID: 16385452 Free PMC article.
32 results