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Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy.
Van Hove JL, Van Damme-Lombaerts R, Grünewald S, Peters H, Van Damme B, Fryns JP, Arnout J, Wevers R, Baumgartner ER, Fowler B. Van Hove JL, et al. Among authors: baumgartner er. Am J Med Genet. 2002 Aug 1;111(2):195-201. doi: 10.1002/ajmg.10499. Am J Med Genet. 2002. PMID: 12210350
CblC/D defect combined with haemodynamically highly relevant VSD.
Tomaske M, Bosk A, Heinemann MK, Sieverding L, Baumgartner ER, Fowler B, Trefz FK. Tomaske M, et al. Among authors: baumgartner er. J Inherit Metab Dis. 2001 Aug;24(4):511-2. doi: 10.1023/a:1010541932476. J Inherit Metab Dis. 2001. PMID: 11596656
Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy.
Baumgartner MR, Dantas MF, Suormala T, Almashanu S, Giunta C, Friebel D, Gebhardt B, Fowler B, Hoffmann GF, Baumgartner ER, Valle D. Baumgartner MR, et al. Among authors: baumgartner er. Am J Hum Genet. 2004 Nov;75(5):790-800. doi: 10.1086/425181. Epub 2004 Sep 9. Am J Hum Genet. 2004. PMID: 15359379 Free PMC article.
71 results