Publications by authors named "Ramona Salvarinova"

Ophthalmology 2020 06;127(6):813

Department of Ophthalmology and Visual Sciences, University of British Columbia, Vancouver, British Columbia, Canada.

Orphanet J Rare Dis 2020 04 10;15(1):89. Epub 2020 Apr 10.

University of Ottawa, Ottawa, Ontario, Canada.

Genet Med 2020 Jun 27;22(6):1102-1107. Epub 2020 Feb 27.

Department of Paediatrics and Metabolic Center, University Hospitals Leuven, Leuven, Belgium.

Front Neurol 2019 21;10:434. Epub 2019 May 21.

Department of Medical Genetics, Centre for Applied Neurogenetics (CAN), University of British Columbia, Vancouver, BC, Canada.

J Inherit Metab Dis 2019 05 11;42(3):553-564. Epub 2019 Feb 11.

Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.

Genet Med 2019 07 13;21(7):1621-1628. Epub 2018 Dec 13.

BC Children's Hospital Research Institute, Vancouver, BC, Canada.

Mol Genet Metab 2018 01 15;123(1):28-42. Epub 2017 Nov 15.

Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada; Centre for Molecular Medicine and Therapeutics, Vancouver, BC, Canada; BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada; Departments of Pediatrics and Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands. Electronic address:

Genet Med 2017 12 26;19(12). Epub 2017 Oct 26.

Department of Clinical Neurosciences & MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.

Genet Med 2017 12 27;19(12). Epub 2017 Jul 27.

Department of Clinical Neurosciences & MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.

Am J Hum Genet 2017 Jul 29;101(1):65-74. Epub 2017 Jun 29.

Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC V5A 1S6, Canada. Electronic address:

J Child Neurol 2017 03 6;32(4):403-407. Epub 2017 Jan 6.

2 Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital, Vancouver, BC, Canada.

J Nutr 2017 02 4;147(2):211-217. Epub 2017 Jan 4.

Department of Pediatrics and

N Engl J Med 2016 Jun 25;374(23):2246-55. Epub 2016 May 25.

From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen

Ann Neurol 2015 Oct 21;78(4):649-58. Epub 2015 Aug 21.

Department of Child Neurology, VU University Medical Center, Amsterdam, the Netherlands.

Mol Genet Metab 2015 Mar 3;114(3):409-14. Epub 2014 Dec 3.

Department of Pediatrics, University of British Columbia, Division of Biochemical Diseases, British Columbia Children's Hospital, Vancouver, Canada.

Neurogenetics 2015 Apr 30;16(2):145-9. Epub 2014 Nov 30.

Division of Biochemical Diseases, Rm K3-201, Department of Pediatrics, B.C. Children's & Women's Hospital, 4480 Oak Street, Vancouver, BC, V6H 3 V4, Canada.

Am J Hum Genet 2014 Mar 13;94(3):453-61. Epub 2014 Feb 13.

Division of Biochemical Diseases, BC Children's Hospital, University of British Columbia, Vancouver, BC V6H 3V4, Canada; Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, BC V6H 3V4, Canada; Treatable Intellectual Disability Endeavour in British Columbia, BC Children's Hospital, University of British Columbia, Vancouver, BC V5Z 4H4, Canada.

Eur J Hum Genet 2013 Nov 27;21(11):1232-9. Epub 2013 Feb 27.

1] Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada [2] Genetics and Health Cluster, Child and Family Research Institute, BC Children's Hospital, Vancouver, British Columbia, Canada.

Gene 2012 Apr 31;497(2):320-2. Epub 2012 Jan 31.

Biochemical Diseases Clinical Service, BC Children's Hospital, Vancouver, BC, Canada.