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Adenine nucleotide translocator 1 deficiency associated with Sengers syndrome.
Jordens EZ, Palmieri L, Huizing M, van den Heuvel LP, Sengers RC, Dörner A, Ruitenbeek W, Trijbels FJ, Valsson J, Sigfusson G, Palmieri F, Smeitink JA. Jordens EZ, et al. Among authors: sengers rc. Ann Neurol. 2002 Jul;52(1):95-9. doi: 10.1002/ana.10214. Ann Neurol. 2002. PMID: 12112053
Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system.
Janssen AJ, Schuelke M, Smeitink JA, Trijbels FJ, Sengers RC, Lucke B, Wintjes LT, Morava E, van Engelen BG, Smits BW, Hol FA, Siers MH, Ter Laak H, van der Knaap MS, Van Spronsen FJ, Rodenburg RJ, van den Heuvel LP. Janssen AJ, et al. Among authors: sengers rc. Ann Neurol. 2008 Apr;63(4):473-81. doi: 10.1002/ana.21328. Ann Neurol. 2008. PMID: 18306232
Smith-Lemli-Opitz syndrome and the DHCR7 gene.
Jira PE, Waterham HR, Wanders RJ, Smeitink JA, Sengers RC, Wevers RA. Jira PE, et al. Among authors: sengers rc. Ann Hum Genet. 2003 May;67(Pt 3):269-80. doi: 10.1046/j.1469-1809.2003.00034.x. Ann Hum Genet. 2003. PMID: 12914579 Review.
182 results