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Francesca Romano

University of Florence

11

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227

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OL-EDA-ID Syndrome: a Novel Hypomorphic NEMO Mutation Associated with a Severe Clinical Presentation and Transient HLH

2017 Journal of Clinical Immunology
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Osteomyelitis and arthritis caused by Mycobacterium intracellulare: an underestimated diagnosis

2017 International Journal of Tuberculosis and Lung Disease
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Newborn screening for PIDs using both TREC and KREC identifies late occurrence of B cells

2017 Pediatric Allergy and Immunology
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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

2016 Clinical Chemistry and Laboratory Medicine
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A rare cause of osteomyelitis with a rare genetic mutation: when Mycobacterium doesn't only mean tuberculosis.

2015 International Journal of Tuberculosis and Lung Disease
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Hemophagocytic lymphohistiocytosis in 2 patients with underlying IFN-? receptor deficiency

2015 The Journal of Allergy and Clinical Immunology
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Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots

2014 The Journal of Allergy and Clinical Immunology
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The inclusion of ADA-SCID in expanded newborn screening by tandem mass spectrometry.

2014 Journal of Pharmaceutical and Biomedical Analysis
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Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency.

2013 The Journal of Allergy and Clinical Immunology
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Low molecular weight, non-peptidic agonists of TrkA receptor with NGF-mimetic activity

2012 Cell Death and Disease
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Citations (46)