• Salvarinova-Zivkovic, Ramona

    Titles

    Investigator, BC Children's Hospital
    Clinical Assistant Professor, Divison of Biochemical DiseasesDepartment of Pediatrics, University of British Columbia

    Degrees / Designations
    MD, FRCPC, FCCMG
    Primary Area of Research
    Childhood Diseases
    Secondary Area(s) of Research
    Phone
    604-875-2628
    Fax
    Lab Phone
    Mailing Address

    BC Children's Hospital
    Room K301
    4480 Oak Street
    Vancouver, BC  V6H 3V4

    Affiliate Websites
    Research Areas
    Summary
    Current Projects
    Selected Publications

    Kevelam S. Bierau J, Salvarinova R, Agrawal S, Honzik T, Visser D, Weiss M, Salomons G, Abbink T, Waisfisz Q, van der Knaap Recessive ITPA mutations cause an early infantile encephalopathy, Annals of Neurology 07/2015; 78(4). DOI:10.1002/ana.24496

    Stockler-Ipsiroglu S, Yuskiv N, Salvarinova R, Apatean D, Ho G, Cheng B, Giezen A, Lillquist Y, Ueda K. Individualized long-term outcomes in blood phenylalanine concentrations and dietary phenylalanine tolerance in 11 patients with primary phenylalanine hydroxylase (PAH) deficiency treated with Sapropterin-dihydrochloride.Mol Genet Metab. 2015 Mar;114(3):409-14. doi: 10.1016/j.ymgme.2014.11.014. Epub 2014 Dec 3.PMID:25497838

    Salvarinova R, Ye CX, Rossi A, Biancheri R, Roland EH, Pavlidis P, Ross CJ, Tarailo-Graovac M, Wasserman WW, van Karnebeek CD. Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalities. Neurogenetics. 2015 Apr;16(2):145-9. doi: 10.1007/s10048-014-0432-y. Epub 2014 Nov 30.PMID:25432320

    van Karnebeek CD, Sly WS, Ross CJ, Salvarinova R, Yaplito-Lee J, Santra S, Shyr C, Horvath GA, Eydoux P, Lehman AM, Bernard V, Newlove T, Ukpeh H, Chakrapani A, Preece MA, Ball S, Pitt J, Vallance HD, Coulter-Mackie M, Nguyen H, Zhang LH, Bhavsar AP, Sinclair G, Waheed A, Wasserman WW, Stockler-Ipsiroglu S. Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.Am J Hum Genet. 2014 Mar 6;94(3):453-61. doi: 10.1016/j.ajhg.2014.01.006. Epub 2014 Feb 13. PMID:24530203

    Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R; for the Mitochondrial Medicine Society Clinical Directors Working Group; Clinical Director’s Work Group. Collaborators: Anselm I, Collins A, Cohen BH, Debrosse SD, Dimmock D, Falk MJ, Ganesh J, Greene C, Gropman AL, Haas R, Kahler SG, Kamholz J, Kendall F, Korson MS, Mattman A, Milone M, Niyazov D, Pearl PL, Reimschisel T, Salvarinova-Zivkovic R, Sims K, Tarnopolsky M, Tsao CY, van Hove J, Walsh L, Wolfe LA.  Practice patterns of mitochondrial disease physicians in North America. Part 1: Diagnostic and clinical challenges. Mitochondrion. 2013 Jul 26. pii: S1567-7249(13)00215-8. doi: 10.1016/j.mito.2013.07.116. [Epub ahead of print].

    Hartnett C, Salvarinova-Zivkovic R, Yap-Todos E, Cheng B, Giezen A, Horvath G, Lillquist Y, Vallance H, Stockler-Ipsiroglu S. Long-term outcomes of blood phenylalanine concentrations in children with classical phenylketonuria. Mol Genet Metab. 2013 Apr;108(4):255-8. doi: 10.1016/j.ymgme.2013.01.007. Epub 2013 Jan 23.PMID:23465864

    Dias C, McDonald A, Sincan M, Rupps R, Markello TC, Salvarinova R, Santos R, Menghrajani K, Ahaghotu C, Sutherland D, Fortuno ES, Kollmann T, Demos M, Friedman JM, Speert D, Gahl W, Boerkoel CF. Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation. Eur J Hum Genet. Advance online publication 27 February 2013. doi: 10.1038/ejhg.2013.20.

    Salvarinova R, Hartnett C, Sinclair G, Dix D, Horvath G, Lillquist Y, Stockler-Ipsiroglu S. The use of parenteral nutrition for the management of PKU patient undergoing chemotherapy for lymphoma: a case report. Mol Genet Metab 2012 Apr 105(4):671-4. Epub 2012 Jan 16.

    Grants
    Honours & Awards

    2012: Award of  Distinction Family Centered Care by Partners in Care & BC Children's Hospital

    Research Group Members