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Clinical outcomes of a large cohort of individuals with the F508del/5T;TG12 CFTR genotype.
J Cyst Fibros. 2022 Sep;21(5):850-855. doi: 10.1016/j.jcf.2022.04.020. Epub 2022 May 4.
J Cyst Fibros. 2022.
PMID: 35523714
BACKGROUND: In recent years, patients with cystic fibrosis (CF) conductance regulator (CFTR) variant poly(T) sequences have been increasingly reported with a wide spectrum of clinical severity. We describe the long-term clinical outcomes and progression to a CF diagnosis o …
BACKGROUND: In recent years, patients with cystic fibrosis (CF) conductance regulator (CFTR) variant poly(T) sequences have been increasingl …
Long-term benefits of nusinersen in a child affected by cystic fibrosis and spinal muscular atrophy type 1.
Bruno G, Donnarumma B, Inverardi A, Buonpensiero P, Sepe A, Tosco A, Raia V, Varone A.
Bruno G, et al. Among authors: tosco a.
Pediatr Pulmonol. 2021 Jun;56(6):1806-1808. doi: 10.1002/ppul.25334. Epub 2021 Mar 8.
Pediatr Pulmonol. 2021.
PMID: 33684256
No abstract available.
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Cystic Fibrosis-Screening Positive Inconclusive Diagnosis: Newborn Screening and Long-Term Follow-Up Permits to Early Identify Patients with CFTR-Related Disorders.
Castaldo A, Cimbalo C, Castaldo RJ, D'Antonio M, Scorza M, Salvadori L, Sepe A, Raia V, Tosco A.
Castaldo A, et al. Among authors: tosco a.
Diagnostics (Basel). 2020 Aug 8;10(8):570. doi: 10.3390/diagnostics10080570.
Diagnostics (Basel). 2020.
PMID: 32784480
Free PMC article.
BACKGROUND: Newborn screening (NBS) early-identifies cystic fibrosis (CF), but in CF-screening positive inconclusive diagnosis (CF-SPID) the results of immunoreactive trypsinogen (IRT), molecular analysis and sweat test (ST) are discordant. A percentage of CF-SPID evolves to CF, …
BACKGROUND: Newborn screening (NBS) early-identifies cystic fibrosis (CF), but in CF-screening positive inconclusive diagnosis (CF-SPID) the …
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Molecular bases of copper and iron deficiency-associated dyslipidemia: a microarray analysis of the rat intestinal transcriptome.
Tosco A, Fontanella B, Danise R, Cicatiello L, Grober OM, Ravo M, Weisz A, Marzullo L.
Tosco A, et al.
Genes Nutr. 2010 Mar;5(1):1-8. doi: 10.1007/s12263-009-0153-2. Epub 2009 Oct 11.
Genes Nutr. 2010.
PMID: 19821111
Free PMC article.
Mild dietary deficiency of metals represents an underestimated problem for human health, because it does not cause clear signs and clinical symptoms, but it is associated to long-term deleterious effects in cardiovascular system and alterations in lipid metabolism. ...
Mild dietary deficiency of metals represents an underestimated problem for human health, because it does not cause clear signs and clinical …
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Early hospital discharge of the healthy term neonate: the Italian perspective.
Petrone E, Mansi G, Tosco A, Capasso L, Migliaro F, Umbaldo A, Romano A, Paludetto R, Raimondi F.
Petrone E, et al. Among authors: tosco a.
Minerva Pediatr. 2008 Jun;60(3):273-6.
Minerva Pediatr. 2008.
PMID: 18487973
AIM: An appropriate timing of hospital discharge of the healthy, term neonate represents a balance between birth medicalization and surveillance of immediate health hazards. In the absence of European recommendations, the authors have conducted a broad national surv …
AIM: An appropriate timing of hospital discharge of the healthy, term neonate represents a balance between birth medicalizatio …
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