The MMACHC variant c.158T>C: Mild clinical and biochemical phenotypes and marked hydroxocobalamin response in cblC patients
Molecular Genetics and Metabolism
Demaret, T. and Bdard, K. and Soucy, J.-F. and Watkins, D. and Allard, P. and Levtova, A. and O'Brien, A. and Brunel-Guitton, C. and Rosenblatt, D.S. and Mitchell, G.A.
DOI:
10.1016/j.ymgme.2024.108345
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.
DOI:
10.1186/s12887-023-04393-4
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.
DOI:
10.1016/j.ymgmr.2023.100961
Infantile onset carnitine palmitoyltransferase 2 deficiency: Cortical polymicrogyria, schizencephaly, and gray matter heterotopias in an adolescent with normal development
JIMD Reports
Shelihan, I. and Rossignol, E. and Dcarie, J.-C. and Bonnefont, J.-P. and Brivet, M. and Brunel-Guitton, C. and Mitchell, G.A.
DOI:
10.1002/jmd2.12243
Prenatal pleural effusions and chylothorax: An unusual presentation for CM-AVM syndrome due to RASA1.
American journal of medical genetics. Part A
D'Amours G and Brunel-Guitton C and Delrue MA and Dubois J and Laberge S and Soucy JF
DOI:
10.1002/ajmg.a.61779
PubMed:
32776686
08 / 2020
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, M.T. and Kronick, J.B. and Potter, B.K. and Coyle, D. and Wilson, K. and Kowalski, M. and Austin, V. and Brunel-Guitton, C. and Buhas, D. and Chan, A.K.J. and Dyack, S. and Feigenbaum, A. and Giezen, A. and Goobie, S. and Greenberg, C.R. and Ghai, S.J. 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 Mohan, C. and Mhanni, A. and Mitchell, G. and Mitchell, J.J. and Nagy, L. and Napier, 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 Trakadis, Y. and Turner, L. and Van Karnebeek, C. and Vallance, H. and Vandersteen, A. and Walia, J. and Wilson, A. and Wilson, B.J. and Yu, A.C. and Yuskiv, N. and Chakraborty, P.
DOI:
10.1186/s13023-020-01358-z
Fulminant Necrotizing Enterocolitis and Multiple Organ Dysfunction in a Toddler with Mitochondrial DNA Depletion Syndrome-13
Journal of Pediatric Intensive Care
Nicolas Nardi and Franois Proulx and Catherine Brunel-Guiton and Luc L. Oligny and Nelson Pich and Grant A. Mitchell and Jean Sbastien Joyal
DOI:
10.1055/s-0039-1697620
10 / 2019
Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex 1 deficiency
Molecular Genetics and Metabolism Reports
Apatean, D. and Rakic, B. and Brunel-Guitton, C. and Hendson, G. and Bai, R. and Sargent, M.A. and Lavoie, P.M. and Patel, M. and Stockler-Ipsiroglu, S.
DOI:
10.1016/j.ymgmr.2019.100472
Muscle problems in juvenile-onset acid maltase deficiency (Pompe disease)
Paediatrics and Child Health (Canada)
Zapata-Aldana, E. and McMillan, H.J. and Rupar, T. and Brunel-Guitton, C. and Chakraborty, P. and Mitchell, J.J. and Roth, J. and Tarnopolsky, M.A. and Turner, L. and Campbell, C.
DOI:
10.1093/pch/pxy153
Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort
Journal of Inherited Metabolic Disease
Levtova, A. and Waters, P.J. and Buhas, D. and Lvesque, S. and Auray-Blais, C. and Clarke, J.T.R. and Laframboise, R. and Maranda, B. and Mitchell, G.A. and Brunel-Guitton, C. and Braverman, N.E.
DOI:
10.1002/jimd.12032
Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians,Les soins de sant prodigus au Canada des individus atteints de troubles mitochondriaux : Une enqute mene auprs de mdecins
Canadian Journal of Neurological Sciences
Paik, K. and Lines, M.A. and Chakraborty, P. and Khangura, S.D. and Latocki, M. and Al-Hertani, W. and Brunel-Guitton, C. and Khan, A. and Penny, B. and Rockman-Greenberg, C. and Rupar, C.A. and Sondheimer, N. and Tarnopolsky, M. and Tingley, K. and Coyle, D. and Dyack, S. and Feigenbaum, A. and Geraghty, M.T. and Gillis, J. and Van Karnebeek, C.D.M. and Kronick, J.B. and Little, J. and Potter, M. and Siriwardena, K. and Sparkes, R. and Turner, L.A. and Wilson, K. and Buhas, D. and Potter, B.K.
DOI:
10.1017/cjn.2019.240
Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex I deficiency
Molecular Genetics and Metabolism Reports
Apatean, D. and Rakic, B. and Brunel-Guitton, C. and Hendson, G. and Bai, R. and Sargent, M.A. and Lavoie, P.M. and Patel, M. and Stockler-Ipsiroglu, S.
DOI:
10.1016/j.ymgmr.2018.12.006
Acute pediatric hyperammonemia: current diagnosis and management strategies
Hepatic Medicine: Evidence and Research
Nadia Savy and David Brossier and Catherine Brunel-Guitton and Laurence Ducharme-Crevier and Genevive Du Pont-Thibodeau and Philippe Jouvet
DOI:
10.2147/hmer.s140711
09 / 2018
Glutaric aciduria type 3: Three unrelated canadian cases, with different routes of ascertainment
JIMD Reports
Waters, P.J. and Kitzler, T.M. and Feigenbaum, A. and Geraghty, M.T. and Al-Dirbashi, O. and Bherer, P. and Auray-Blais, C. and Gravel, S. and McIntosh, N. and Siriwardena, K. and Trakadis, Y. and Brunel-Guitton, C. and Al-Hertani, W.
DOI:
10.1007/8904_2017_49
Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy
Clinical Genetics
Perrier, S. and Gauquelin, L. and Ttreault, M. and Tran, L.T. and Webb, N. and Srour, M. and Mitchell, J.J. and Brunel-Guitton, C. and Majewski, J. and Long, V. and Keller, S. and Gambello, M.J. and Simons, C. and Vanderver, A. and Bernard, G.
DOI:
10.1111/cge.13126
Atypical juvenile presentation of GM2 gangliosidosis AB in a patient compound-heterozygote for c.259G>T and c.164C>T mutations in the GM2A gene
Molecular Genetics and Metabolism Reports
Martins, C. and Brunel-Guitton, C. and Lortie, A. and Gauvin, F. and Morales, C.R. and Mitchell, G.A. and Pshezhetsky, A.V.
DOI:
10.1016/j.ymgmr.2017.01.017
The Qubec NTBC study
Advances in Experimental Medicine and Biology
Alvarez, F. and Atkinson, S. and Bouchard, M. and Brunel-Guitton, C. and Buhas, D. and Bussires, J.-F. and Dubois, J. and Fenyves, D. and Goodyer, P. and Gosselin, M. and Halac, U. and Labb, P. and Laframboise, R. and Maranda, B. and Melan?on, S. and Merouani, A. and Mitchell, G.A. and Mitchell, J. and Parizeault, G. and Pelletier, L. and Phan, V. and Turcotte, J.-F.
DOI:
10.1007/978-3-319-55780-9_17
Premature Ovarian Failure in French Canadian Leigh Syndrome
Journal of Pediatrics
Ghaddhab, C. and Morin, C. and Brunel-Guitton, C. and Mitchell, G.A. and Van Vliet, G. and Huot, C.
DOI:
10.1016/j.jpeds.2017.02.008
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.
DOI:
10.1038/gim.2017.107
Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency
Journal of Medical Genetics
Yang, H. and Al-Hertani, W. and Cyr, D. and Laframboise, R. and Parizeault, G. and Wang, S.P. and Rossignol, F. and Berthier, M.-T. and Gigure, Y. and Waters, P.J. and Mitchell, G.A. and Alvarez, F. and Brunel-Guitton, C. and Buhas, D. and Dubois, J. and Gosselin, M. and Halac, U. and Maranda, B. and Mitchell, J. and Turcotte, J.-F.
DOI:
10.1136/jmedgenet-2016-104289
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.
DOI:
10.1038/gim.2017.164
Reply
Journal of Pediatrics
Ghaddhab, C. and Morin, C. and Brunel-Guitton, C. and Mitchell, G.A. and Van Vliet, G. and Huot, C.
DOI:
10.1016/j.jpeds.2017.04.067
A highly diverse portrait: Heterogeneity of neuropsychological profiles in cblc defect
JIMD Reports
Bellerose, J. and Neugnot-Cerioli, M. and Bdard, K. and Brunel-Guitton, C. and Mitchell, G.A. and Ospina, L.H. and Beauchamp, M.H.
DOI:
10.1007/8904_2015_517
Biosynthesis of glycosaminoglycans: associated disorders and biochemical tests
Journal of Inherited Metabolic Disease
Sasarman, F. and Maftei, C. and Campeau, P.M. and Brunel-Guitton, C. and Mitchell, G.A. and Allard, P.
DOI:
10.1007/s10545-015-9903-z
Normal cerebrospinal fluid pyridoxal 5'-phosphate level in a PNPO-deficient patient with neonatal-onset epileptic encephalopathy
JIMD Reports
Levtova, A. and Camuzeaux, S. and Laberge, A.-M. and Allard, P. and Brunel-Guitton, C. and Diadori, P. and Rossignol, E. and Hyland, K. and Clayton, P.T. and Mills, P.B. and Mitchell, G.A.
DOI:
10.1007/8904_2015_413
An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase
Human Molecular Genetics
Hinttala, R. and Sasarman, F. and Nishimura, T. and Antonicka, H. and Brunel-Guitton, C. and Schwartzentruber, J. and Fahiminiya, S. and Majewski, J. and Faubert, D. and Ostergaard, E. and Smeitink, J.A. and Shoubridge, E.A.
DOI:
10.1093/hmg/ddv149
Scoping review of patient- and family-oriented outcomes and measures for chronic pediatric disease
BMC Pediatrics
Khangura, S.D. and Karaceper, M.D. and Trakadis, Y. and Mitchell, J.J. and Chakraborty, P. and Tingley, K. and Coyle, D. and Grosse, S.D. and Kronick, J.B. and Laberge, A.-M. and Little, J. and Prasad, C. and Sikora, L. and Siriwardena, K. and Sparkes, R. and Speechley, K.N. and Stockler, S. and Wilson, B.J. and Wilson, K. and Zayed, R. and Potter, B.K. and Austin, V. and Feigenbaum, A. and Nagy, L. and Brownwell, M. and Brunel, C. and Casey, R. and Chan, A. and Jain, S. and Chapman, M. and Dyack, S. and Gillis, J. and Dodds, L. and Fell, D. and Geraghty, M. and Langley, E. and Giezen, A. and Ueda, K. and Vallance, H. and Greenberg, C. and Guttmann, A. and Hayeems, R. and Miller, F. and Khan, A. and MacKenzie, J. and Maranda, B. and Mhanni, A. and Mitchell, G. and Nakhla, M. and Pender, A. and Potter, M. and Turner, L. and van Karnebeek, C.
DOI:
10.1186/s12887-015-0323-x
De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy
Human Mutation
Lee, J.-R. and Srour, M. and Kim, D. and Hamdan, F.F. and Lim, S.-H. and Brunel-Guitton, C. and Dcarie, J.-C. and Rossignol, E. and Mitchell, G.A. and Schreiber, A. and Moran, R. and Van Haren, K. and Richardson, R. and Nicolai, J. and Oberndorff, K.M.E.J. and Wagner, J.D. and Boycott, K.M. and Rahikkala, E. and Junna, N. and Tyynismaa, H. and Cuppen, I. and Verbeek, N.E. and Stumpel, C.T.R.M. and Willemsen, M.A. and de Munnik, S.A. and Rouleau, G.A. and Kim, E. and Kamsteeg, E.-J. and Kleefstra, T. and Michaud, J.L.
DOI:
10.1002/humu.22709
The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1
Human Molecular Genetics
Sasarman, F. and Thiffault, I. and Weraarpachai, W. and Salomon, S. and Maftei, C. and Gauthier, J. and Ellazam, B. and Webb, N. and Antonicka, H. and Janer, A. and Brunel-Guitton, C. and Elpeleg, O. and Mitchell, G. and Shoubridge, E.A.
DOI:
10.1093/hmg/ddv044
LPIN1 deficiency with severe recurrent rhabdomyolysis and persistent elevation of creatine kinase levels due to chromosome 2 maternal isodisomy
Molecular Genetics and Metabolism Reports
Meijer, I.A. and Sasarman, F. and Maftei, C. and Rossignol, E. and Vanasse, M. and Major, P. and Mitchell, G.A. and Brunel-Guitton, C.
DOI:
10.1016/j.ymgmr.2015.10.010
Inborn errors of cytoplasmic triglyceride metabolism
Journal of Inherited Metabolic Disease
Wu, J.W. and Yang, H. and Wang, S.P. and Soni, K.G. and Brunel-Guitton, C. and Mitchell, G.A.
DOI:
10.1007/s10545-014-9767-7
Mitochondrial Diseases and Cardiomyopathies
Canadian Journal of Cardiology
Brunel-Guitton, C. and Levtova, A. and Sasarman, F.
DOI:
10.1016/j.cjca.2015.08.017
Late-onset nonketotic hyperglycinemia caused by a novel homozygous missense mutation in the GLDC gene
Molecular Genetics and Metabolism
Brunel-Guitton, C. and Casey, B. and Coulter-Mackie, M. and Vallance, H. and Hewes, D. and Stockler-Ipsiroglu, S. and Mercimek-Mahmutoglu, S.
DOI:
10.1016/j.ymgme.2011.02.009
LRPPRC and SLIRP interact in a ribonucleoprotein complex that regulates posttranscriptional gene expression in mitochondria
Molecular Biology of the Cell
Sasarman, F. and Brunel-Guitton, C. and Antonicka, H. and Wai, T. and Shoubridge, E.A. and Allen, B. and Burelle, Y. and Charron, G. and Coderre, L. and DesRosiers, C. and Laprise, C. and Morin, C. and Rioux, J.
DOI:
10.1091/mbc.E10-01-0047
Treatment of cobalamin C (cblC) deficiency during pregnancy
Journal of Inherited Metabolic Disease
Brunel-Guitton, C. and Costa, T. and Mitchell, G.A. and Lambert, M.
DOI:
10.1007/s10545-010-9202-7
Enzyme replacement therapy in pediatric patients with Gaucher disease: What should we use as maintenance dosage?
Molecular Genetics and Metabolism
Brunel-Guitton, C. and Rivard, G.-E. and Galipeau, J. and Alos, N. and Miron, M.-C. and Therrien, R. and Mitchell, G. and Lapierre, G. and Lambert, M.
DOI:
10.1016/j.ymgme.2008.11.158