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, +22

Journal of Allergy and Clinical Immunology

Signal TransductionMedicineImmunologyPathologyTandem Mass Spectrometry +3

Development of an UPLC–MS/MS method for the determination of antibiotic ertapenem on dried blood spots

Giancarlo la Marca, Elisa Giocaliere, Fabio Villanelli, +7

Journal of Pharmaceutical and Biomedical Analysis

Antimicrobial ChemotherapyDried Blood SpotsBioanalysisAntibiotic ErtapenemAnalytical Chemistry +14

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, +25

Journal of Allergy and Clinical Immunology

Primary ImmunodeficiencyDried Blood SpotsBioanalysisMass SpectrometryHematology +5

Rapid and sensitive LC–MS/MS method for the analysis of antibiotic linezolid on dried blood spot

Giancarlo la Marca, Fabio Villanelli, Sabrina Malvagia, +9

Journal of Pharmaceutical and Biomedical Analysis

Antibiotic LinezolidAntimicrobial SusceptibilityAntibioticsMedicineBioanalysis +10

Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience

Margherita Ruoppolo, Sabrina Malvagia, Sara Boenzi, +47

International Journal of Neonatal Screening

NeonatologyFetal MedicineDiagnosisNewborn ScreeningNeonatal Genomics +20

Therapeutic drug monitoring of carbamazepine and its metabolite in children from dried blood spots using liquid chromatography and tandem mass spectrometry

Engy Shokry, Fabio Villanelli, Sabrina Malvagia, +7

Journal of Pharmaceutical and Biomedical Analysis

Therapeutic Drug MonitoringGas ChromatographyMedicineBioanalysisMass Spectrometry +11

Heptadecanoylcarnitine (C17) a novel candidate biomarker for newborn screening of propionic and methylmalonic acidemias

Sabrina Malvagia, Christopher A. Haynes, Laura Grisotto, +12

Clinica Chimica Acta

Biomarker (Medicine)Novel Candidate BiomarkerNeonatologyNewborn ScreeningMethylmalonic Acidemias +9

Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency

Amelia Morrone, Sabrina Malvagia, Maria Alice Donati, +7

American Journal of Medical Genetics

The inclusion of ADA-SCID in expanded newborn screening by tandem mass spectrometry

Giancarlo la Marca, Elisa Giocaliere, Sabrina Malvagia, +9

Journal of Pharmaceutical and Biomedical Analysis

Newborn ScreeningExpanded Newborn ScreeningMass SpectrometryPediatricsProtein Mass Spectrometry +8

Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment

Catia Cavicchi, Maria Alice Donati, Rossella Parini, +12

Orphanet Journal of Rare Diseases