Publications

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
DOI: 10.1186/s13023-020-01358-z
PubMed: 32276663
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 Õunap K and Salvarinova R and Grønborg 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
DOI: 10.1038/s41436-020-0767-8
PubMed: 32103184
02/2020

Vitreous Changes in Gaucher Disease Type 3
Ophthalmology
Promelle, V. and Salvarinova, R. and Lyons, C.J.
DOI: 10.1016/j.ophtha.2020.02.019
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.
DOI: 10.1055/s-0039-3402010
2020

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
DOI: 10.3389/fneur.2019.00434
PubMed: 31164858
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 Õunap K
DOI: 10.1002/jimd.12055
PubMed: 30746764
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 Drögemoller B and Shyr C and Mwenifumbo J and  United for Metabolic Diseases and the CAUSES Study
DOI: 10.1038/s41436-018-0376-y
PubMed: 30542205
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
DOI: 10.1016/j.ymgme.2017.11.003
PubMed: 29331171
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
DOI: 10.1016/j.ajhg.2017.05.016
PubMed: 28669405
06/2017

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.
DOI: 10.3945/jn.116.240218
2017

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.
DOI: 10.1177/0883073816685508
2017

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 Drögemöller BI and Abdelsayed M and Alfadhel M and van Karnebeek CD
DOI: 10.1056/nejmoa1515792
PubMed: 27276562
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.
DOI: 10.1016/j.ymgme.2014.11.014
2015

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.
DOI: 10.1002/ana.24496
2015

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.
DOI: 10.1007/s10048-014-0432-y
2015

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
DOI: 10.1016/j.ajhg.2014.01.006
PubMed: 24530203
02/2014

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
DOI: 10.1038/ejhg.2013.20
PubMed: 23443029
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.
DOI: 10.1016/j.ymgme.2013.01.007
2013

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.
DOI: 10.1016/j.gene.2012.01.056
2012

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.
DOI: 10.1016/j.ymgme.2012.01.007
2012

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.
2011

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.
DOI: 10.1016/j.ymgme.2008.01.003
2008