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

Year Number of Results
1982 1
1984 1
1985 1
1988 2
1989 2
1990 3
1991 4
1992 9
1993 10
1994 4
1995 5
1996 3
1997 3
1998 2
1999 8
2000 3
2001 7
2002 1
2003 1
2004 5
2005 3
2006 2
2007 3
2008 4
2009 4
2010 7
2011 7
2012 12
2013 6
2014 10
2015 11
2016 12
2017 10
2018 5
2019 9
2020 15
2021 27
2022 16
2023 8
2024 1

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Similar articles for PMID: 8488845

225 results

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Page 1
Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency.
Andresen BS, Dobrowolski SF, O'Reilly L, Muenzer J, McCandless SE, Frazier DM, Udvari S, Bross P, Knudsen I, Banas R, Chace DH, Engel P, Naylor EW, Gregersen N. Andresen BS, et al. Am J Hum Genet. 2001 Jun;68(6):1408-18. doi: 10.1086/320602. Epub 2001 May 8. Am J Hum Genet. 2001. PMID: 11349232 Free PMC article.
Urinary medium-chain acylcarnitines in medium-chain acyl-CoA dehydrogenase deficiency, medium-chain triglyceride feeding and valproic acid therapy: sensitivity and specificity of the radioisotopic exchange/high performance liquid chromatography method.
Schmidt-Sommerfeld E, Penn D, Rinaldo P, Kossak D, Li BU, Huang ZH, Gage DA. Schmidt-Sommerfeld E, et al. Pediatr Res. 1992 Jun;31(6):545-51. doi: 10.1203/00006450-199206000-00002. Pediatr Res. 1992. PMID: 1635814
A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency.
Okun JG, Kölker S, Schulze A, Kohlmüller D, Olgemöller K, Lindner M, Hoffmann GF, Wanders RJ, Mayatepek E. Okun JG, et al. Biochim Biophys Acta. 2002 Oct 10;1584(2-3):91-8. doi: 10.1016/s1388-1981(02)00296-2. Biochim Biophys Acta. 2002. PMID: 12385891
225 results