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BMC Medical Genetics
|
July 18, 2006
Familial deletion 18p syndrome: case report
Bruno Maranda, Nicole Lemieux, Emmanuelle Lemyre
Current Protocols
|
June 19, 2024
Analysis of Globotriaosylceramide (Gb<sub>3</sub>) in Liquid Urine: A Straightforward Assay Using Tandem Mass Spectrometry
Michel Boutin, Bruno Maranda, Paula J Waters
Biomolecules
|
January 8, 2025
UPLC-MS/MS High-Risk Screening for Sphingolipidoses Using Dried Urine Spots
Tristan Martineau, Bruno Maranda, Christiane Auray-Blais
JIMD Reports
|
March 2, 2026
Quantitative Succinylacetone Measurement by Gas Chromatography-Tandem Mass Spectrometry (GC-MS/MS) Facilitates Diagnosis, Monitoring, and Characterization of Tyrosinemia Type 1 and Other Hypersuccinylacetonemias
Denis Cyr, Bruno Maranda, Paula J Waters
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
June 10, 2014
High-throughput tandem mass spectrometry multiplex analysis for newborn urinary screening of creatine synthesis and transport disorders, Triple H syndrome and OTC deficiency
Christiane Auray-Blais, Bruno Maranda, Pamela Lavoie
Clinical Biochemistry
|
April 6, 2007
False positives in plasma ammonia measurement and their clinical impact in a pediatric population
Bruno Maranda, Jocelyne Cousineau, Pierre Allard, et al.
JIMD Reports
|
November 8, 2024
Enhanced differentiation between 3-hydroxyglutaric and 2-hydroxyglutaric acids facilitates diagnostic testing for glutaric aciduria type 1
Denis Cyr, Michel Boutin, Bruno Maranda, et al.
Molecular Genetics and Metabolism
|
January 22, 2025
Exploratory metabolomic profiling of plasma and urine in patients with mucopolysaccharidosis type II (Hunter syndrome): A pilot study
Asma Farjallah, Bruno Maranda, Roberto Giugliani, et al.
Metabolomics : Official Journal of the Metabolomic Society
|
March 2, 2025
Identification of gangliosides and ceramides as biomarkers for mucopolysaccharidosis type II (hunter syndrome) through untargeted lipidomic analysis
Asma Farjallah, Bruno Maranda, Roberto Giugliani, et al.
International Journal of Neonatal Screening
|
April 3, 2021
Neonatal Urine Screening Program in the Province of Quebec: Technological Upgrade from Thin Layer Chromatography to Tandem Mass Spectrometry
Christiane Auray-Blais, Michel Boutin, Pamela Lavoie, et al.
Page
of 7
Search research articles
Search
Showing results (1-10 of 63) with videos related to
Sort By:
Page
of 7
BMC Medical Genetics
|
July 18, 2006
Familial deletion 18p syndrome: case report
Bruno Maranda, Nicole Lemieux, Emmanuelle Lemyre
Current Protocols
|
June 19, 2024
Analysis of Globotriaosylceramide (Gb<sub>3</sub>) in Liquid Urine: A Straightforward Assay Using Tandem Mass Spectrometry
Michel Boutin, Bruno Maranda, Paula J Waters
Biomolecules
|
January 8, 2025
UPLC-MS/MS High-Risk Screening for Sphingolipidoses Using Dried Urine Spots
Tristan Martineau, Bruno Maranda, Christiane Auray-Blais
JIMD Reports
|
March 2, 2026
Quantitative Succinylacetone Measurement by Gas Chromatography-Tandem Mass Spectrometry (GC-MS/MS) Facilitates Diagnosis, Monitoring, and Characterization of Tyrosinemia Type 1 and Other Hypersuccinylacetonemias
Denis Cyr, Bruno Maranda, Paula J Waters
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
June 10, 2014
High-throughput tandem mass spectrometry multiplex analysis for newborn urinary screening of creatine synthesis and transport disorders, Triple H syndrome and OTC deficiency
Christiane Auray-Blais, Bruno Maranda, Pamela Lavoie
Clinical Biochemistry
|
April 6, 2007
False positives in plasma ammonia measurement and their clinical impact in a pediatric population
Bruno Maranda, Jocelyne Cousineau, Pierre Allard, et al.
JIMD Reports
|
November 8, 2024
Enhanced differentiation between 3-hydroxyglutaric and 2-hydroxyglutaric acids facilitates diagnostic testing for glutaric aciduria type 1
Denis Cyr, Michel Boutin, Bruno Maranda, et al.
Molecular Genetics and Metabolism
|
January 22, 2025
Exploratory metabolomic profiling of plasma and urine in patients with mucopolysaccharidosis type II (Hunter syndrome): A pilot study
Asma Farjallah, Bruno Maranda, Roberto Giugliani, et al.
Metabolomics : Official Journal of the Metabolomic Society
|
March 2, 2025
Identification of gangliosides and ceramides as biomarkers for mucopolysaccharidosis type II (hunter syndrome) through untargeted lipidomic analysis
Asma Farjallah, Bruno Maranda, Roberto Giugliani, et al.
International Journal of Neonatal Screening
|
April 3, 2021
Neonatal Urine Screening Program in the Province of Quebec: Technological Upgrade from Thin Layer Chromatography to Tandem Mass Spectrometry
Christiane Auray-Blais, Michel Boutin, Pamela Lavoie, et al.
Page
of 7