Catherine Brunel-Guitton

Catherine Brunel-Guitton

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Catherine Brunel-Guitton

Catherine Brunel-Guitton

Publications by authors named "Catherine Brunel-Guitton"

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25Publications

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Muscle problems in juvenile-onset acid maltase deficiency (Pompe disease).

Paediatr Child Health 2019 Jul 8;24(4):270-271. Epub 2019 May 8.

Department of Neurology Paediatrics, Children's Hospital London Health Science Centre, London, Ontario.

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http://dx.doi.org/10.1093/pch/pxy153DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6587424PMC
July 2019

Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex 1 deficiency.

Mol Genet Metab Rep 2019 Jun 30;19:100472. Epub 2019 Apr 30.

Head Division of Biochemical Genetics, BC Children's Hospital, University of British Columbia, Room K3-205, 4480 Oak Street, Vancouver, BC V6H 3V4, Canada.

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http://dx.doi.org/10.1016/j.ymgmr.2019.100472DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6495215PMC
June 2019

Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex I deficiency.

Mol Genet Metab Rep 2019 Mar 18;18:32-38. Epub 2019 Jan 18.

University of British Columbia, Head Division of Biochemical Genetics, BC Children's Hospital, Room K3-205, 4480 Oak Street, Vancouver, BC V6H 3V4, Canada.

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https://linkinghub.elsevier.com/retrieve/pii/S22144269183009
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http://dx.doi.org/10.1016/j.ymgmr.2018.12.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6349952PMC
March 2019

Acute pediatric hyperammonemia: current diagnosis and management strategies.

Hepat Med 2018 12;10:105-115. Epub 2018 Sep 12.

Department of Pediatrics, CHU Sainte-Justine, University of Montreal, Montreal, QC, Canada,

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http://dx.doi.org/10.2147/HMER.S140711DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6140721PMC
September 2018

Reply.

J Pediatr 2017 08 24;187:334-335. Epub 2017 May 24.

Division of Endocrinology and Research Center CHU Sainte-Justine; Department of Pediatrics Université de Montréal Montreal, Quebec, Canada.

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http://dx.doi.org/10.1016/j.jpeds.2017.04.067DOI Listing
August 2017

Premature Ovarian Failure in French Canadian Leigh Syndrome.

J Pediatr 2017 05 8;184:227-229.e1. Epub 2017 Mar 8.

Division of Endocrinology and Research Center, CHU Sainte-Justine, Montréal, Québec, Canada; Centre de Santé et de Services Sociaux de Chicoutimi, Chicoutimi, Québec, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2017.02.008DOI Listing
May 2017

Biosynthesis of glycosaminoglycans: associated disorders and biochemical tests.

J Inherit Metab Dis 2016 Mar 21;39(2):173-88. Epub 2015 Dec 21.

Division of Medical Genetics, Department of Pediatrics, Université de Montréal and CHU Sainte-Justine, 3175 Côte Sainte-Catherine, Montreal, QC, H3T 1C5, Canada.

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http://dx.doi.org/10.1007/s10545-015-9903-zDOI Listing
March 2016

Mitochondrial Diseases and Cardiomyopathies.

Can J Cardiol 2015 Nov 28;31(11):1360-76. Epub 2015 Aug 28.

Medical Genetics Division, Department of Pediatrics, CHU Sainte-Justine, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1016/j.cjca.2015.08.017DOI Listing
November 2015

Normal Cerebrospinal Fluid Pyridoxal 5'-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy.

JIMD Rep 2015 12;22:67-75. Epub 2015 Mar 12.

Divisions of Medical Genetics (AL, AML, CBG, GM) and Neurology (PD, ER), Department of Paediatrics, Biochemical Genetics Laboratory (CBG, PA), CHU Sainte-Justine and Université de Montréal, 3175 Côte-Sainte-Catherine, Montreal, QC, Canada, H3T 1C5.

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http://dx.doi.org/10.1007/8904_2015_413DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4486275PMC
July 2015

Inborn errors of cytoplasmic triglyceride metabolism.

J Inherit Metab Dis 2015 Jan 10;38(1):85-98. Epub 2014 Oct 10.

Division of Medical Genetics, Department of Pediatrics, Université de Montréal and CHU Sainte-Justine, 3175 Côte Sainte-Catherine, Montreal, QC, H3T 1C5, Canada.

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http://dx.doi.org/10.1007/s10545-014-9767-7DOI Listing
January 2015

Late-onset nonketotic hyperglycinemia caused by a novel homozygous missense mutation in the GLDC gene.

Mol Genet Metab 2011 Jun 22;103(2):193-6. Epub 2011 Feb 22.

Division of Biochemical Diseases, Department of Pediatrics, University of British Columbia, Canada.

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http://dx.doi.org/10.1016/j.ymgme.2011.02.009DOI Listing
June 2011

Treatment of cobalamin C (cblC) deficiency during pregnancy.

J Inherit Metab Dis 2010 Dec 10;33 Suppl 3:S409-12. Epub 2010 Sep 10.

Medical Genetics Division, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine and Université de Montréal, 3175 Chemin de la Côte-Sainte-Catherine, Montreal, Quebec, Canada H3T 1C5.

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http://link.springer.com/10.1007/s10545-010-9202-7
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http://dx.doi.org/10.1007/s10545-010-9202-7DOI Listing
December 2010

LRPPRC and SLIRP interact in a ribonucleoprotein complex that regulates posttranscriptional gene expression in mitochondria.

Mol Biol Cell 2010 Apr 3;21(8):1315-23. Epub 2010 Mar 3.

Department of Human Genetics, Montreal Neurological Institute, McGill University, Montreal, QC, H3A 2B4, Canada.

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http://www.molbiolcell.org/doi/10.1091/mbc.e10-01-0047
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http://dx.doi.org/10.1091/mbc.e10-01-0047DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2854090PMC
April 2010

Enzyme replacement therapy in pediatric patients with Gaucher disease: what should we use as maintenance dosage?

Mol Genet Metab 2009 Feb 10;96(2):73-6. Epub 2008 Dec 10.

Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, University of Montreal, 3175 Chemin de la Côte-Sainte-Catherine, Montreal, Que. H3T1C5, Canada.

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http://dx.doi.org/10.1016/j.ymgme.2008.11.158DOI Listing
February 2009