Ramona Salvarinova Zivkovic

Immune Dysregulation in a Child With SOD1-Related Neurological Disease

American Journal of Medical Genetics Part A

Boutin, R.C.T. and Shobeirian, F. and Adam, S. and Lehman, A. and Salvarinova, R. and Friedman, J.M.

Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

BMC Pediatrics

Iverson, R. and Taljaard, M. and Geraghty, M.T. and Pugliese, M. and Tingley, K. and Coyle, D. and Kronick, J.B. and Wilson, K. and Austin, V. and Brunel-Guitton, C. and Buhas, D. and Butcher, N.J. and Chan, A.K.J. and Dyack, S. and Goobie, S. and Greenberg, C.R. and Jain-Ghai, S. and Inbar-Feigenberg, M. and Karp, N. and Kozenko, M. and Langley, E. and Lines, M. and Little, J. and MacKenzie, J. and Maranda, B. and Mercimek-Andrews, S. and Mhanni, A. and Mitchell, J.J. and Nagy, L. and Offringa, M. and Pender, A. and Potter, M. and Prasad, C. and Ratko, S. and Salvarinova, R. and Schulze, A. and Siriwardena, K. and Sondheimer, N. and Sparkes, R. and Stockler-Ipsiroglu, S. and Tapscott, K. and Trakadis, Y. and Turner, L. and Van Karnebeek, C. and Vandersteen, A. and Walia, J.S. and Wilson, B.J. and Yu, A.C. and Potter, B.K. and Chakraborty, P.

Use of dexamethasone in acute rhabdomyolysis in LPIN1 deficiency

Molecular Genetics and Metabolism Reports

Yeganeh, M. and March, K. and Jones, C. and Ho, G. and Selby, K.A. and Chanoine, J.-P. and Stockler, S. and Salvarinova, R. and Horvath, G. and Brunel-Guitton, C.

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study

Human Genetics and Genomics Advances

Elliott, A.M. and Adam, S. and du Souich, C. and Lehman, A. and Nelson, T.N. and van Karnebeek, C. and Alderman, E. and Armstrong, L. and Aubertin, G. and Blood, K. and Boelman, C. and Boerkoel, C. and Bretherick, K. and Brown, L. and Chijiwa, C. and Clarke, L. and Couse, M. and Creighton, S. and Watts-Dickens, A. and Gibson, W.T. and Gill, H. and Tarailo-Graovac, M. and Hamilton, S. and Heran, H. and Horvath, G. and Huang, L. and Hulait, G.K. and Koehn, D. and Lee, H.K. and Lewis, S. and Lopez, E. and Louie, K. and Niederhoffer, K. and Matthews, A. and Meagher, K. and Peng, J.J. and Patel, M.S. and Race, S. and Richmond, P. and Rupps, R. and Salvarinova, R. and Seath, K. and Selby, K. and Steinraths, M. and Stockler, S. and Tang, K. and Tyson, C. and van Allen, M. and Wasserman, W. and Mwenifumbo, J. and Friedman, J.M.

De novo variants in ATP2B1 lead to neurodevelopmental delay

American Journal of Human Genetics

Rahimi, M.J. and Urban, N. and Wegler, M. and Sticht, H. and Schaefer, M. and Popp, B. and Gaunitz, F. and Morleo, M. and Nigro, V. and Maitz, S. and Mancini, G.M.S. and Ruivenkamp, C. and Suk, E.-K. and Bartolomaeus, T. and Merkenschlager, A. and Koboldt, D. and Bartholomew, D. and Stegmann, A.P.A. and Sinnema, M. and Duynisveld, I. and Salvarinova, R. and Race, S. and de Vries, B.B.A. and Trimouille, A. and Naudion, S. and Marom, D. and Hamiel, U. and Henig, N. and Demurger, F. and Rahner, N. and Bartels, E. and Hamm, J.A. and Putnam, A.M. and Person, R. and Abou Jamra, R. and Oppermann, H.

Development of minimally invasive 13C-glucose breath test to examine different exogenous carbohydrate sources in patients with glycogen storage disease type Ia

Molecular Genetics and Metabolism Reports

Turki, A. and Stockler, S. and Sirrs, S. and Salvarinova, R. and Ho, G. and Branov, J. and Rosen-Heath, A. and Bosdet, T. and Elango, R.

Long term follow-up of the dietary intake in propionic acidemia

Molecular Genetics and Metabolism Reports

Mobarak, A. and Stockler, S. and Salvarinova, R. and Van Karnebeek, C. and Horvath, G.

Hyperleucinosis during infections in maple syrup urine disease post liver transplantation

Molecular Genetics and Metabolism Reports

Guilder, L. and Prada, C.E. and Saenz, S. and Jain-Ghai, S. and Karp, N. and Mazariegos, G. and Ratko, S. and Salvarinova, R. and Mercimek-Andrews, S.

NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum

Frontiers in Neurology

den Hollander, B. and Rasing, A. and Post, M.A. and Klein, W.M. and Oud, M.M. and Brands, M.M. and de Boer, L. and Engelke, U.F.H. and van Essen, P. and Fuchs, S.A. and Haaxma, C.A. and Jensson, B.O. and Kluijtmans, L.A.J. and Lengyel, A. and Lichtenbelt, K.D. and ?stergaard, E. and Peters, G. and Salvarinova, R. and Simon, M.E.H. and Stefansson, K. and Thorarensen, ?. and Ulmen, U. and Coene, K.L.M. and Willemsen, M.A. and Lefeber, D.J. and Karnebeek, C.D.M.V.

A human multisystem disorder with autoinflammation, leukoencephalopathy and hepatopathy is caused by mutations in C2orf69

medRxiv

Lausberg, E. and Gieelmann, S. and Dewulf, J.P. and Wiame, E. and Holz, A. and Salvarinova, R. and Van Karnebeek, C. and Klemm, P. and Ohl, K. and Mull, M. and Braunschweig, T. and Weis, J. and Sommer, C. and Demuth, S. and Haase, C. and Debray, F.-G. and Libioulle, C. and Choukair, D. and Oommen, P.T. and Borkhardt, A. and Surowy, H. and Wieczorek, D. and Meyer, R. and Eggermann, T. and Begemann, M. and Van Schaftingen, E. and Husler, M. and Tenbrock, K. and Van den Heuvel, L. and Elbracht, M. and Kurth, I. and Kraft, F.

C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation

Journal of Clinical Investigation

Lausberg, E. and Gieelmann, S. and Dewulf, J.P. and Wiame, E. and Holz, A. and Salvarinova, R. and van Karnebeek, C.D. and Klemm, P. and Ohl, K. and Mull, M. and Braunschweig, T. and Weis, J. and Sommer, C.J. and Demuth, S. and Haase, C. and Stollbrink-Peschgens, C. and Debray, F.-G. and Libioulle, C. and Choukair, D. and Oommen, P.T. and Borkhardt, A. and Surowy, H. and Wieczorek, D. and Wagner, N. and Meyer, R. and Eggermann, T. and Begemann, M. and van Schaftingen, E. and Husler, M. and Tenbrock, K. and van den Heuvel, L. and Elbracht, M. and Kurth, I. and Kraft, F.

Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network.

Orphanet journal of rare diseases

Tingley K and Lamoureux M and Pugliese M and Geraghty MT and Kronick JB and Potter BK and Coyle D and Wilson K and Kowalski M and Austin V and Brunel-Guitton C and Buhas D and Chan AKJ and Canadian Inherited Metabolic Diseases Research Network

04 / 2020

Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG.

Genetics in medicine : official journal of the American College of Medical Genetics

Witters P and Tahata S and Barone R and unap K and Salvarinova R and Grnborg S and Hoganson G and Scaglia F and Lewis AM and Mori M and Sykut-Cegielska J and Edmondson A and He M and Morava E

02 / 2020

Recurrent Dystonic Crisis and Rhabdomyolysis Treated with Dantrolene in Two Patients with Aromatic L-Amino Acid Decarboxylase Deficiency

Neuropediatrics

Micallef, J. and Stockler-Ipsiroglu, S. and Van Karnebeek, C.D. and Salvarinova-Zivkovic, R. and Horvath, G.

Vitreous Changes in Gaucher Disease Type 3

Ophthalmology

Promelle, V. and Salvarinova, R. and Lyons, C.J.

Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy.

Frontiers in neurology

Demos M and Guella I and DeGuzman C and McKenzie MB and Buerki SE and Evans DM and Toyota EB and Boelman C and Huh LL and Datta A and Michoulas A and Selby K and Bjornson BH and Horvath G and Farrer MJ

05 / 2019

Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.

Journal of inherited metabolic disease

Vals MA and Ashikov A and Ilves P and Loorits D and Zeng Q and Barone R and Huijben K and Sykut-Cegielska J and Diogo L and Elias AF and Greenwood RS and Grunewald S and van Hasselt PM and unap K

02 / 2019

Atypical cerebral palsy: genomics analysis enables precision medicine.

Genetics in medicine : official journal of the American College of Medical Genetics

Matthews AM and Blydt-Hansen I and Al-Jabri B and Andersen J and Tarailo-Graovac M and Price M and Selby K and Demos M and Connolly M and Drgemoller B and Shyr C and Mwenifumbo J and United for Metabolic Diseases and the CAUSES Study

12 / 2018

The genotypic and phenotypic spectrum of MTO1 deficiency.

Molecular genetics and metabolism

O'Byrne JJ and Tarailo-Graovac M and Ghani A and Champion M and Deshpande C and Dursun A and Ozgul RK and Freisinger P and Garber I and Haack TB and Horvath R and Baric I and Husain RA and van Karnebeek CDM

11 / 2017

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy.

American journal of human genetics

Lehman A and Thouta S and Mancini GMS and Naidu S and van Slegtenhorst M and McWalter K and Person R and Mwenifumbo J and Salvarinova R and CAUSES Study and EPGEN Study and Guella I and Claydon T

06 / 2017

Diagnostic yield and treatment impact of targeted exome sequencing in early-onset epilepsy

bioRxiv

Demos, M. and Guella, I. and McKenzie, M.B. and Buerki, S.E. and Evans, D.M. and Toyota, E.B. and Boelman, C. and Huh, L.L. and Datta, A. and Michoulas, A. and Selby, K. and Bjornson, B.H. and Horvath, G. and Lopez-Rangel, E. and van Karnebeek, C.D.M. and Salvarinova, R. and Slade, E. and Eydoux, P. and Adam, S. and van Allen, M.I. and Nelson, T.N. and Bolbocean, C. and Connolly, M.B. and Farrer, M.J.

Case Report: QARS Deficiency and Favorable Outcome Following Treatment of Seizures with Ketogenic Diet

Journal of Child Neurology

Datta, A. and Ferguson, A. and Simonson, C. and Zannotto, F. and Michoulas, A. and Roland, E. and Karnebeek, C.V. and Salvarinova, R.

The indicator amino acid oxidation method with the use of l-[1-13C]leucine suggests a higher than currently recommended protein requirement in childrenwith Phenylketonuria

Journal of Nutrition

Turki, A. and Ueda, K. and Cheng, B. and Giezen, A. and Salvarinova, R. and Stockler-Ipsiroglu, S. and Elango, R.

Patient care standards for primary mitochondrial disease: A consensus statement from the mitochondrial medicine society

Genetics in Medicine

Parikh, S. and Goldstein, A. and Karaa, A. and Koenig, M.K. and Anselm, I. and Brunel-Guitton, C. and Christodoulou, J. and Cohen, B.H. and Dimmock, D. and Enns, G.M. and Falk, M.J. and Feigenbaum, A. and Frye, R.E. and Ganesh, J. and Griesemer, D. and Haas, R. and Horvath, R. and Korson, M. and Kruer, M.C. and Mancuso, M. and McCormack, S. and Raboisson, M.J. and Reimschisel, T. and Salvarinova, R. and Saneto, R.P. and Scaglia, F. and Shoffner, J. and Stacpoole, P.W. and Sue, C.M. and Tarnopolsky, M. and Van Karnebeek, C. and Wolfe, L.A. and Cunningham, Z.Z. and Rahman, S. and Chinnery, P.F.

Response to Newman et al.

Genetics in Medicine

Parikh, S. and Goldstein, A. and Karaa, A. and Koenig, M.K. and Anselm, I. and Brunel-Guitton, C. and Christodoulou, J. and Cohen, B.H. and Dimmock, D. and Enns, G.M. and Falk, M.J. and Feigenbaum, A. and Frye, R.E. and Ganesh, J. and Griesemer, D. and Haas, R. and Horvath, R. and Korson, M. and Kruer, M.C. and Mancuso, M. and McCormack, S. and Josee Raboisson, M. and Reimschisel, T. and Salvarinova, R. and Saneto, R.P. and Scaglia, F. and Shoffner, J. and Stacpoole, P.W. and Sue, C.M. and Tarnopolsky, M. and Van Karnebeek, C. and Wolfe, L.A. and Zolkipli Cunningham, Z. and Rahman, S. and Chinnery, P.F.

Exome Sequencing and the Management of Neurometabolic Disorders.

The New England journal of medicine

Tarailo-Graovac M and Shyr C and Ross CJ and Horvath GA and Salvarinova R and Ye XC and Zhang LH and Bhavsar AP and Lee JJ and Drgemller BI and Abdelsayed M and Alfadhel M and van Karnebeek CD

05 / 2016

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

Molecular Genetics and Metabolism

Stockler-Ipsiroglu, S. and Yuskiv, N. and Salvarinova, R. and Apatean, D. and Ho, G. and Cheng, B. and Giezen, A. and Lillquist, Y. and Ueda, K.

Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalities

Neurogenetics

Salvarinova, R. and Ye, C.X. and Rossi, A. and Biancheri, R. and Roland, E.H. and Pavlidis, P. and Ross, C.J. and Tarailo-Graovac, M. and Wasserman, W.W. and van Karnebeek, C.D.M.

Recessive ITPA mutations cause an early infantile encephalopathy

Annals of Neurology

Kevelam, S.H. and Bierau, J. and Salvarinova, R. and Agrawal, S. and Honzik, T. and Visser, D. and Weiss, M.M. and Salomons, G.S. and Abbink, T.E.M. and Waisfisz, Q. and Van Der Knaap, M.S.

Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.

American journal of human genetics

van Karnebeek CD and Sly WS and Ross CJ and Salvarinova R and Yaplito-Lee J and Santra S and Shyr C and Horvath GA and Eydoux P and Lehman AM and Bernard V and Newlove T and Ukpeh H and Stockler-Ipsiroglu S

02 / 2014

Practice patterns of mitochondrial disease physicians in North America. Part 1: Diagnostic and clinical challenges

Mitochondrion

Parikh, S. and Goldstein, A. and Koenig, M.K. and Scaglia, F. and Enns, G.M. and Saneto, R. and Anselm, I. and Collins, A. and Cohen, B.H. and DeBrosse, S.D. and Dimmock, D. and Falk, M.J. and Ganesh, J. and Greene, C. and Gropman, A.L. and Haas, R. and Kahler, S.G. and Kamholz, J. and Kendall, F. and Korson, M.S. and Mattman, A. and Milone, M. and Niyazov, D. and Pearl, P.L. and Reimschisel, T. and Salvarinova-Zivkovic, R. and Sims, K. and Tarnopolsky, M. and Tsao, C.-Y. and van Hove, J. and Walsh, L. and Wolfe, L.A.

Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation.

European journal of human genetics : EJHG

Dias C and McDonald A and Sincan M and Rupps R and Markello T and Salvarinova R and Santos RF and Menghrajani K and Ahaghotu C and Sutherland DP and Fortuno ES and Kollmann TR and Boerkoel CF

02 / 2013

Long-term outcomes of blood phenylalanine concentrations in children with classical phenylketonuria

Molecular Genetics and Metabolism

Hartnett, C. and Salvarinova-Zivkovic, R. and Yap-Todos, E. and Cheng, B. and Giezen, A. and Horvath, G. and Lillquist, Y. and Vallance, H. and Stockler-Ipsiroglu, S.

The use of parenteral nutrition for the management of PKU patient undergoing chemotherapy for lymphoma: A case report

Molecular Genetics and Metabolism

Salvarinova-Zivkovic, R. and Hartnett, C. and Sinclair, G. and Dix, D. and Horvath, G. and Lillquist, Y. and Stockler-Ipsiroglu, S.

A variant of unknown significance in the GLA gene causing diagnostic uncertainty in a young female with isolated hypertrophic cardiomyopathy

Gene

Al-Thihli, K. and Ebrahim, H. and Hughes, D.A. and Patel, M. and Tipple, M. and Salvarinova, R. and Gardiner, J. and Vallance, H. and Waters, P.J.

Mitochondrial disease clinical manifestations: An overview

British Columbia Medical Journal

Mattman, A. and Jarvis-Selinger, S. and Mezei, M.M. and Salvarinova-Zivkovic, R. and Alfadhel, M. and Lillquist, Y.

Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: Evidence of a phenotypic continuum between dominant and recessive forms

Molecular Genetics and Metabolism

Horvath, G.A. and Stockler-Ipsiroglu, S.G. and Salvarinova-Zivkovic, R. and Lillquist, Y.P. and Connolly, M. and Hyland, K. and Blau, N. and Rupar, T. and Waters, P.J.