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

Year Number of Results
1974 1
1975 2
1976 3
1977 2
1978 3
1979 4
1980 6
1981 4
1982 6
1983 3
1984 9
1985 12
1986 8
1987 12
1988 6
1989 11
1990 12
1991 10
1992 10
1993 11
1994 11
1995 16
1996 12
1997 15
1998 17
1999 10
2000 13
2001 8
2002 10
2003 9
2004 5
2005 5
2006 6
2007 5
2008 3
2009 3
2011 1
2012 2
2013 2
2014 1
2015 1
2024 0

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286 results

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Page 1
Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease.
Broomfield A, Sweeney MG, Woodward CE, Fratter C, Morris AM, Leonard JV, Abulhoul L, Grunewald S, Clayton PT, Hanna MG, Poulton J, Rahman S. Broomfield A, et al. Among authors: leonard jv. J Inherit Metab Dis. 2015 May;38(3):445-57. doi: 10.1007/s10545-014-9778-4. Epub 2014 Oct 29. J Inherit Metab Dis. 2015. PMID: 25352051 Free PMC article.
HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.
Ferdinandusse S, Waterham HR, Heales SJ, Brown GK, Hargreaves IP, Taanman JW, Gunny R, Abulhoul L, Wanders RJ, Clayton PT, Leonard JV, Rahman S. Ferdinandusse S, et al. Among authors: leonard jv. Orphanet J Rare Dis. 2013 Dec 4;8:188. doi: 10.1186/1750-1172-8-188. Orphanet J Rare Dis. 2013. PMID: 24299452 Free PMC article.
Recommendations for the management of tyrosinaemia type 1.
de Laet C, Dionisi-Vici C, Leonard JV, McKiernan P, Mitchell G, Monti L, de Baulny HO, Pintos-Morell G, Spiekerkötter U. de Laet C, et al. Among authors: leonard jv. Orphanet J Rare Dis. 2013 Jan 11;8:8. doi: 10.1186/1750-1172-8-8. Orphanet J Rare Dis. 2013. PMID: 23311542 Free PMC article. Review.
Diagnosis and management of glutaric aciduria type I--revised recommendations.
Kölker S, Christensen E, Leonard JV, Greenberg CR, Boneh A, Burlina AB, Burlina AP, Dixon M, Duran M, García Cazorla A, Goodman SI, Koeller DM, Kyllerman M, Mühlhausen C, Müller E, Okun JG, Wilcken B, Hoffmann GF, Burgard P. Kölker S, et al. Among authors: leonard jv. J Inherit Metab Dis. 2011 Jun;34(3):677-94. doi: 10.1007/s10545-011-9289-5. Epub 2011 Mar 23. J Inherit Metab Dis. 2011. PMID: 21431622 Free PMC article. Review.
Pricing of orphan drugs.
Leonard JV, Richmond S. Leonard JV, et al. Lancet. 2009 Feb 7;373(9662):462. doi: 10.1016/S0140-6736(09)60169-0. Lancet. 2009. PMID: 19200917 No abstract available.
Causes of and diagnostic approach to methylmalonic acidurias.
Fowler B, Leonard JV, Baumgartner MR. Fowler B, et al. Among authors: leonard jv. J Inherit Metab Dis. 2008 Jun;31(3):350-60. doi: 10.1007/s10545-008-0839-4. Epub 2008 Jun 19. J Inherit Metab Dis. 2008. PMID: 18563633 Review.
286 results