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

Year Number of Results
1966 1
1967 3
1968 1
1973 1
1978 1
1979 1
1980 2
1981 1
1983 1
1985 1
1986 1
1987 1
1988 2
1990 1
1991 1
1992 1
1993 1
2000 1
2004 1
2024 0

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PubMed (OMIM) for id: 82822

23 results

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Page 1
A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.
Ensenauer R, Vockley J, Willard JM, Huey JC, Sass JO, Edland SD, Burton BK, Berry SA, Santer R, Grünert S, Koch HG, Marquardt I, Rinaldo P, Hahn S, Matern D. Ensenauer R, et al. Am J Hum Genet. 2004 Dec;75(6):1136-42. doi: 10.1086/426318. Epub 2004 Oct 14. Am J Hum Genet. 2004. PMID: 15486829 Free PMC article.
The pancytopenia of isovaleric acidemia.
Kelleher JF Jr, Yudkoff M, Hutchinson R, August CS, Cohn RM. Kelleher JF Jr, et al. Pediatrics. 1980 May;65(5):1023-7. Pediatrics. 1980. PMID: 7367115
Isovaleric acidemia.
Efron ML. Efron ML. Am J Dis Child. 1967 Jan;113(1):74-6. doi: 10.1001/archpedi.1967.02090160124015. Am J Dis Child. 1967. PMID: 6015910 No abstract available.
23 results