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

Year Number of Results
1946 1
1959 1
1961 1
1962 1
1964 2
1965 1
1966 2
1968 2
1970 1
1973 1
1977 1
1978 1
1979 1
1981 1
1982 1
1983 2
1989 1
1990 3
1991 1
1992 3
1994 2
1995 3
1996 1
1997 1
1998 6
1999 2
2000 2
2002 2
2003 2
2005 1
2006 2
2008 1
2012 1
2013 1
2015 1
2016 1
2023 1
2024 0

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PubMed (OMIM) for id: 212

56 results

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Page 1
Dersimelagon in Erythropoietic Protoporphyrias.
Balwani M, Bonkovsky HL, Levy C, Anderson KE, Bissell DM, Parker C, Takahashi F, Desnick RJ, Belongie K; Endeavor Investigators. Balwani M, et al. N Engl J Med. 2023 Apr 13;388(15):1376-1385. doi: 10.1056/NEJMoa2208754. N Engl J Med. 2023. PMID: 37043653 Clinical Trial.
Molecular and functional analysis of the C-terminal region of human erythroid-specific 5-aminolevulinic synthase associated with X-linked dominant protoporphyria (XLDPP).
Ducamp S, Schneider-Yin X, de Rooij F, Clayton J, Fratz EJ, Rudd A, Ostapowicz G, Varigos G, Lefebvre T, Deybach JC, Gouya L, Wilson P, Ferreira GC, Minder EI, Puy H. Ducamp S, et al. Hum Mol Genet. 2013 Apr 1;22(7):1280-8. doi: 10.1093/hmg/dds531. Epub 2012 Dec 20. Hum Mol Genet. 2013. PMID: 23263862
Hereditary (sex-linked?) anemia.
RUNDLES RW, FALLS HF. RUNDLES RW, et al. Am J Med Sci. 1946 Jun;211:641-58. doi: 10.1097/00000441-194606000-00001. Am J Med Sci. 1946. PMID: 20992689 No abstract available.
C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload.
Whatley SD, Ducamp S, Gouya L, Grandchamp B, Beaumont C, Badminton MN, Elder GH, Holme SA, Anstey AV, Parker M, Corrigall AV, Meissner PN, Hift RJ, Marsden JT, Ma Y, Mieli-Vergani G, Deybach JC, Puy H. Whatley SD, et al. Am J Hum Genet. 2008 Sep;83(3):408-14. doi: 10.1016/j.ajhg.2008.08.003. Epub 2008 Sep 4. Am J Hum Genet. 2008. PMID: 18760763 Free PMC article.
56 results