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Essays in Biochemistry
|
July 8, 2018
Biomarkers for mitochondrial energy metabolism diseases
Sara Boenzi, Daria Diodato
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
April 8, 2006
Methylmalonic and propionic aciduria
Federica Deodato, Sara Boenzi, Filippo M Santorelli, et al.
BMJ Case Reports
|
May 4, 2026
β-ureidopropionase deficiency mimicking Leigh syndrome associated with methylmalonic aciduria
Giulia Ferrera, Sara Boenzi, Eleonora Lamantea, et al.
Molecular Genetics and Metabolism
|
June 15, 2013
Optimizing the dose of hydroxocobalamin in cobalamin C (cblC) defect
Carlo Dionisi-Vici, Diego Martinelli, Ferdinando Ceravolo, et al.
Frontiers in Pediatrics
|
January 21, 2025
Case Report: Two years of compassionate use with Olipudase-alfa in a child with neurovisceral acid sphingomyelinase deficiency
Federica Deodato, Sara Boenzi, Benedetta Greco, et al.
Molecular Genetics and Metabolism
|
November 23, 2021
Comprehensive-targeted lipidomic analysis in Niemann-Pick C disease
Sara Boenzi, Giulio Catesini, Elisa Sacchetti, et al.
Journal of Lipid Research
|
January 7, 2016
Evaluation of plasma cholestane-3β,5α,6β-triol and 7-ketocholesterol in inherited disorders related to cholesterol metabolism
Sara Boenzi, Federica Deodato, Roberta Taurisano, et al.
Ophthalmology
|
August 5, 2009
Retinal degeneration
Chiara Morini, Paolo Capozzi, Sara Boenzi, et al.
Journal of Lipid Research
|
December 22, 2025
New Multiplex LC-MS/MS Method for lipid biomarker Analysis of Inherited Neurodegenerative Metabolic Diseases
Anna Sidorina, Giulio Catesini, Federica Deodato, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
May 19, 2016
A new multiplex method for the diagnosis of peroxisomal disorders allowing simultaneous determination of plasma very-long-chain fatty acids, phytanic, pristanic, docosahexaenoic and bile acids by high-performance liquid chromatography-atmospheric pressure chemical ionization-tandem mass spectrometry
Michela Semeraro, Cristiano Rizzo, Sara Boenzi, et al.
Page
of 5
Search research articles
Search
Showing results (1-10 of 44) with videos related to
Sort By:
Page
of 5
Essays in Biochemistry
|
July 8, 2018
Biomarkers for mitochondrial energy metabolism diseases
Sara Boenzi, Daria Diodato
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
April 8, 2006
Methylmalonic and propionic aciduria
Federica Deodato, Sara Boenzi, Filippo M Santorelli, et al.
BMJ Case Reports
|
May 4, 2026
β-ureidopropionase deficiency mimicking Leigh syndrome associated with methylmalonic aciduria
Giulia Ferrera, Sara Boenzi, Eleonora Lamantea, et al.
Molecular Genetics and Metabolism
|
June 15, 2013
Optimizing the dose of hydroxocobalamin in cobalamin C (cblC) defect
Carlo Dionisi-Vici, Diego Martinelli, Ferdinando Ceravolo, et al.
Frontiers in Pediatrics
|
January 21, 2025
Case Report: Two years of compassionate use with Olipudase-alfa in a child with neurovisceral acid sphingomyelinase deficiency
Federica Deodato, Sara Boenzi, Benedetta Greco, et al.
Molecular Genetics and Metabolism
|
November 23, 2021
Comprehensive-targeted lipidomic analysis in Niemann-Pick C disease
Sara Boenzi, Giulio Catesini, Elisa Sacchetti, et al.
Journal of Lipid Research
|
January 7, 2016
Evaluation of plasma cholestane-3β,5α,6β-triol and 7-ketocholesterol in inherited disorders related to cholesterol metabolism
Sara Boenzi, Federica Deodato, Roberta Taurisano, et al.
Ophthalmology
|
August 5, 2009
Retinal degeneration
Chiara Morini, Paolo Capozzi, Sara Boenzi, et al.
Journal of Lipid Research
|
December 22, 2025
New Multiplex LC-MS/MS Method for lipid biomarker Analysis of Inherited Neurodegenerative Metabolic Diseases
Anna Sidorina, Giulio Catesini, Federica Deodato, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
May 19, 2016
A new multiplex method for the diagnosis of peroxisomal disorders allowing simultaneous determination of plasma very-long-chain fatty acids, phytanic, pristanic, docosahexaenoic and bile acids by high-performance liquid chromatography-atmospheric pressure chemical ionization-tandem mass spectrometry
Michela Semeraro, Cristiano Rizzo, Sara Boenzi, et al.
Page
of 5