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European Journal of Mass Spectrometry (Chichester, England)
|
January 1, 2014
Screening of lysosomal storage disorders: application of the online trapping-and-cleanup liquid chromatography/mass spectrometry method for mucopolysaccharidosis I
Daniela Ombrone, Sabrina Malvagia, Silvia Funghini, et al.
Journal of Pharmaceutical and Biomedical Analysis
|
October 1, 2013
The inclusion of ADA-SCID in expanded newborn screening by tandem mass spectrometry
Giancarlo la Marca, Elisa Giocaliere, Sabrina Malvagia, et al.
Journal of Pharmaceutical and Biomedical Analysis
|
May 8, 2012
Rapid and sensitive LC-MS/MS method for the analysis of antibiotic linezolid on dried blood spot
Giancarlo la Marca, Fabio Villanelli, Sabrina Malvagia, et al.
Clinical Chemistry and Laboratory Medicine
|
October 15, 2015
Development and validation of a 2nd tier test for identification of purine nucleoside phosphorylase deficiency patients during expanded newborn screening by liquid chromatography-tandem mass spectrometry
Giancarlo la Marca, Elisa Giocaliere, Sabrina Malvagia, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
September 15, 2015
Heptadecanoylcarnitine (C17) a novel candidate biomarker for newborn screening of propionic and methylmalonic acidemias
Sabrina Malvagia, Christopher A Haynes, Laura Grisotto, et al.
European Journal of Neurology
|
May 20, 2025
High Prevalence of GALC Gene Variants in Adults With Neurodegenerative Conditions
Federica Feo, Luciana Tramacere, Silvia Ramat, et al.
Molecular Genetics and Metabolism
|
April 12, 2026
Over ten years of newborn screening for LSDs in Tuscany (Italy): Epidemiology, novel variants, and the pseudodeficiency burden
Sabrina Malvagia, Marta Daniotti, Rodolfo Tonin, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy
|
July 24, 2014
A chaperone enhances blood α-glucosidase activity in Pompe disease patients treated with enzyme replacement therapy
Giancarlo Parenti, Simona Fecarotta, Giancarlo la Marca, et al.
The Journal of Allergy and Clinical Immunology
|
January 3, 2013
Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency
Giancarlo la Marca, Clementina Canessa, Elisa Giocaliere, et al.
The Journal of Allergy and Clinical Immunology
|
April 29, 2014
Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots
Giancarlo la Marca, Clementina Canessa, Elisa Giocaliere, et al.
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Search research articles
Search
Showing results (11-20 of 22) with videos related to
Sort By:
Page
of 3
European Journal of Mass Spectrometry (Chichester, England)
|
January 1, 2014
Screening of lysosomal storage disorders: application of the online trapping-and-cleanup liquid chromatography/mass spectrometry method for mucopolysaccharidosis I
Daniela Ombrone, Sabrina Malvagia, Silvia Funghini, et al.
Journal of Pharmaceutical and Biomedical Analysis
|
October 1, 2013
The inclusion of ADA-SCID in expanded newborn screening by tandem mass spectrometry
Giancarlo la Marca, Elisa Giocaliere, Sabrina Malvagia, et al.
Journal of Pharmaceutical and Biomedical Analysis
|
May 8, 2012
Rapid and sensitive LC-MS/MS method for the analysis of antibiotic linezolid on dried blood spot
Giancarlo la Marca, Fabio Villanelli, Sabrina Malvagia, et al.
Clinical Chemistry and Laboratory Medicine
|
October 15, 2015
Development and validation of a 2nd tier test for identification of purine nucleoside phosphorylase deficiency patients during expanded newborn screening by liquid chromatography-tandem mass spectrometry
Giancarlo la Marca, Elisa Giocaliere, Sabrina Malvagia, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
September 15, 2015
Heptadecanoylcarnitine (C17) a novel candidate biomarker for newborn screening of propionic and methylmalonic acidemias
Sabrina Malvagia, Christopher A Haynes, Laura Grisotto, et al.
European Journal of Neurology
|
May 20, 2025
High Prevalence of GALC Gene Variants in Adults With Neurodegenerative Conditions
Federica Feo, Luciana Tramacere, Silvia Ramat, et al.
Molecular Genetics and Metabolism
|
April 12, 2026
Over ten years of newborn screening for LSDs in Tuscany (Italy): Epidemiology, novel variants, and the pseudodeficiency burden
Sabrina Malvagia, Marta Daniotti, Rodolfo Tonin, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy
|
July 24, 2014
A chaperone enhances blood α-glucosidase activity in Pompe disease patients treated with enzyme replacement therapy
Giancarlo Parenti, Simona Fecarotta, Giancarlo la Marca, et al.
The Journal of Allergy and Clinical Immunology
|
January 3, 2013
Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency
Giancarlo la Marca, Clementina Canessa, Elisa Giocaliere, et al.
The Journal of Allergy and Clinical Immunology
|
April 29, 2014
Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots
Giancarlo la Marca, Clementina Canessa, Elisa Giocaliere, et al.
Page
of 3