Bibliotecas PUC-SP - Busca Integrada

UPLC-MS/MS High-Risk Screening for Sphingolipidoses Using Dried Urine Spots

per Tristan Martineau, Bruno Maranda, Christiane Auray-Blais
Publicat a Biomolecules (2024-12-01)

Neonatal Urine Screening Program in the Province of Quebec: Technological Upgrade from Thin Layer Chromatography to Tandem Mass Spectrometry

per Christiane Auray-Blais, Michel Boutin, Pamela Lavoie, Bruno Maranda
Publicat a International Journal of Neonatal Screening (2021-03-01)

Enhanced differentiation between 3‐hydroxyglutaric and 2‐hydroxyglutaric acids facilitates diagnostic testing for glutaric aciduria type 1

per Denis Cyr, Michel Boutin, Bruno Maranda, Paula J. Waters
Publicat a JIMD Reports (2024-11-01)

Unusual Respiratory Manifestations in Two Young Adults with Duchenne Muscular Dystrophy

per Julie Lemay, Frédéric Sériès, Mario Sénéchal, Bruno Maranda, François Maltais
Publicat a Canadian Respiratory Journal (2012-01-01)

Clinical characteristics of patients from Quebec, Canada, with Morquio A syndrome: a longitudinal observational study

per Lina Moisan, David Iannuzzi, Bruno Maranda, Philippe M. Campeau, John J. Mitchell
Publicat a Orphanet Journal of Rare Diseases (2020-09-01)

Mass Spectrometry Analysis of Globotriaosylsphingosine and Its Analogues in Dried Blood Spots

per Michel Boutin, Pamela Lavoie, Margot Beaudon, Georges Kabala Ntumba, Daniel G. Bichet, Bruno Maranda, Christiane Auray-Blais
Publicat a International Journal of Molecular Sciences (2023-02-01)

A case of hyperlysinemia identified by urine newborn screening

per Mehdi Yeganeh, Christiane Auray‐Blais, Bruno Maranda, Amanda Sabovic, Robert J. DeVita, Michael B. Lazarus, Sander M. Houten
Publicat a JIMD Reports (2023-11-01)

HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French‐Canadian patients from Quebec

per Paula J. Waters, Baiba Lace, Daniela Buhas, Serge Gravel, Denis Cyr, Renée‐Myriam Boucher, Geneviève Bernard, Sébastien Lévesque, Bruno Maranda
Publicat a Molecular Genetics & Genomic Medicine (2019-12-01)

Diurnal Variation of Urinary Fabry Disease Biomarkers during Enzyme Replacement Therapy Cycles

per Michel Boutin, Pamela Lavoie, Iskren Menkovic, Amanda Toupin, Mona Abaoui, Maha Elidrissi-Elawad, Marie-Françoise Arthus, Carole Fortier, Claudia Ménard, Bruno Maranda, Daniel G. Bichet, Christiane Auray-Blais
Publicat a International Journal of Molecular Sciences (2020-08-01)

Metabolic reprogramming of the neovascular niche promotes regenerative angiogenesis in proliferative retinopathy

per Gael Cagnone, Sheetal Pundir, Charlotte Betus, Tapan Agnihotri, Anli Ren, Jin Sung -Kim, Noémie-Rose Harvey, Emilie Heckel, Mei Xi Chen, Anu Situ, Perrine Gaub, Nicholas Kim, Ashim Das, Severine Leclerc, Florian Wünnemann, Louis Berillon, Gregor Andelfinger, Sergio Crespo-Garcia, Alexandre Dubrac, Flavio A. Rezende, Clary B. Clish, Bruno Maranda, José Carlos Rivera, Lois E. H. Smith, Przemyslaw Sapieha, Jean-Sébastien Joyal
Publicat a Nature Communications (2025-06-01)

A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome

per Julie Thompson Legault, Laura Strittmatter, Jessica Tardif, Rohit Sharma, Vanessa Tremblay-Vaillancourt, Chantale Aubut, Gabrielle Boucher, Clary B. Clish, Denis Cyr, Caroline Daneault, Paula J. Waters, Azadeh Aliskashani, Bruce G. Allen, Chantale Aubut, Claudine Beauchamp, Chantal Bemeur, Yan Burelle, Guy Charron, Lise Coderre, Christine Des Rosiers, Sonia Deschênes, François Labarthe, Jeannine Landry, Catherine Laprise, Geneviève Lavallée, Pierre Lavoie, Bruno Maranda, Charles Morin, Yvette Mukaneza, Tamiko Nishimura, John D. Rioux, Marie-Ève Rivard, Florin Sasarman, Eric A. Shoubridge, Jessica Tardif, Julie Thompson Legault, Nancy Tremblay, Vanessa Tremblay-Vaillancourt, Luc Vachon, Josée Villeneuve
Publicat a Cell Reports (2015-11-01)

Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review

per Michael Pugliese, Kylie Tingley, Andrea Chow, Nicole Pallone, Maureen Smith, Alvi Rahman, Pranesh Chakraborty, Michael T. Geraghty, Julie Irwin, Laure Tessier, Stuart G. Nicholls, Martin Offringa, Nancy J. Butcher, Ryan Iverson, Tammy J. Clifford, Sylvia Stockler, Brian Hutton, Karen Paik, Jessica Tao, Becky Skidmore, Doug Coyle, Kathleen Duddy, Sarah Dyack, Cheryl R. Greenberg, Shailly Jain Ghai, Natalya Karp, Lawrence Korngut, Jonathan Kronick, Alex MacKenzie, Jennifer MacKenzie, Bruno Maranda, John J. Mitchell, Murray Potter, Chitra Prasad, Andreas Schulze, Rebecca Sparkes, Monica Taljaard, Yannis Trakadis, Jagdeep Walia, Beth K. Potter, Canadian Inherited Metabolic Diseases Research Network
Publicat a Orphanet Journal of Rare Diseases (2020-01-01)

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

per Ryan Iverson, Monica Taljaard, Michael T. Geraghty, Michael Pugliese, Kylie Tingley, Doug Coyle, Jonathan B. Kronick, Kumanan Wilson, Valerie Austin, Catherine Brunel-Guitton, Daniela Buhas, Nancy J. Butcher, Alicia K. J. Chan, Sarah Dyack, Sharan Goobie, Cheryl R. Greenberg, Shailly Jain-Ghai, Michal Inbar-Feigenberg, Natalya Karp, Mariya Kozenko, Erica Langley, Matthew Lines, Julian Little, Jennifer MacKenzie, Bruno Maranda, Saadet Mercimek-Andrews, Aizeddin Mhanni, John J. Mitchell, Laura Nagy, Martin Offringa, Amy Pender, Murray Potter, Chitra Prasad, Suzanne Ratko, Ramona Salvarinova, Andreas Schulze, Komudi Siriwardena, Neal Sondheimer, Rebecca Sparkes, Sylvia Stockler-Ipsiroglu, Kendra Tapscott, Yannis Trakadis, Lesley Turner, Clara Van Karnebeek, Anthony Vandersteen, Jagdeep S. Walia, Brenda J. Wilson, Andrea C. Yu, Beth K. Potter, Pranesh Chakraborty
Publicat a BMC Pediatrics (2024-01-01)

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 Me...

per Kylie Tingley, Monica Lamoureux, Michael Pugliese, Michael T. Geraghty, Jonathan B. Kronick, Beth K. Potter, Doug Coyle, Kumanan Wilson, Michael Kowalski, Valerie Austin, Catherine Brunel-Guitton, Daniela Buhas, Alicia K. J. Chan, Sarah Dyack, Annette Feigenbaum, Alette Giezen, Sharan Goobie, Cheryl R. Greenberg, Shailly Jain Ghai, Michal Inbar-Feigenberg, Natalya Karp, Mariya Kozenko, Erica Langley, Matthew Lines, Julian Little, Jennifer MacKenzie, Bruno Maranda, Saadet Mercimek-Andrews, Connie Mohan, Aizeddin Mhanni, Grant Mitchell, John J. Mitchell, Laura Nagy, Melanie Napier, Amy Pender, Murray Potter, Chitra Prasad, Suzanne Ratko, Ramona Salvarinova, Andreas Schulze, Komudi Siriwardena, Neal Sondheimer, Rebecca Sparkes, Sylvia Stockler-Ipsiroglu, Yannis Trakadis, Lesley Turner, Clara Van Karnebeek, Hilary Vallance, Anthony Vandersteen, Jagdeep Walia, Ashley Wilson, Brenda J. Wilson, Andrea C. Yu, Nataliya Yuskiv, Pranesh Chakraborty, on behalf of the Canadian Inherited Metabolic Diseases Research Network
Publicat a Orphanet Journal of Rare Diseases (2020-04-01)