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Complex II deficiency--a case report and review of the literature.
Jain-Ghai S, Cameron JM, Al Maawali A, Blaser S, MacKay N, Robinson B, Raiman J. Jain-Ghai S, et al. Am J Med Genet A. 2013 Feb;161A(2):285-94. doi: 10.1002/ajmg.a.35714. Epub 2013 Jan 15. Am J Med Genet A. 2013. PMID: 23322652 Review.
Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders.
Al-Maawali A, Dupuis L, Blaser S, Heon E, Tarnopolsky M, Al-Murshedi F, Marshall CR, Paton T, Scherer SW; FORGE Canada Consortium; Roelofsen J, van Kuilenburg AB, Mendoza-Londono R. Al-Maawali A, et al. Eur J Hum Genet. 2015 Mar;23(3):310-6. doi: 10.1038/ejhg.2014.112. Epub 2014 Jun 25. Eur J Hum Genet. 2015. PMID: 24961627 Free PMC article.
76 results