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View article: Newborn Screening of X-Linked Adrenoleukodystrophy in Italy: Clinical and Biochemical Outcomes from a 4-Year Pilot Study
Newborn Screening of X-Linked Adrenoleukodystrophy in Italy: Clinical and Biochemical Outcomes from a 4-Year Pilot Study Open
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder, caused by mutations in the ABCD1 gene. Early diagnosis is critical to manage adrenal insufficiency and cerebral forms of the disease. Since 2021, a pilot newbor…
View article: Mitochondrial Acetoacetyl-CoA Thiolase Deficiency: Three New Cases Detected by Newborn Screening Confirming the Significance of C4OH Elevation
Mitochondrial Acetoacetyl-CoA Thiolase Deficiency: Three New Cases Detected by Newborn Screening Confirming the Significance of C4OH Elevation Open
Acetoacetyl-CoA thiolase deficiency, also known as Beta-ketothiolase deficiency (BKTD), is an autosomal recessive organic aciduria included in the Italian newborn screening (NBS) panel. It is caused by mutations in the ACAT1 gene, which en…
View article: Correction: Berardo et al. Expanded Newborn Screening in Italy: The First Report of Lombardy Region. Int. J. Neonatal Screen. 2025, 11, 31
Correction: Berardo et al. Expanded Newborn Screening in Italy: The First Report of Lombardy Region. Int. J. Neonatal Screen. 2025, 11, 31 Open
Addition of an author [...]
View article: Expanded Newborn Screening in Italy: The First Report of Lombardy Region
Expanded Newborn Screening in Italy: The First Report of Lombardy Region Open
Background: Newborn screening (NBS) is a preventive healthcare program aiming at identifying the inborn errors of metabolism (IEMs) in asymptomatic infants to reduce the risk of severe complications. The aim of this study was to report the…
View article: Vitamin B12 deficiency in newborns: impact on individual’s health status and healthcare costs
Vitamin B12 deficiency in newborns: impact on individual’s health status and healthcare costs Open
Objectives The identification of vitamin B12 (B12) deficiency in the newborn may prevent neurological damage and a delay in the normal growth. In this study we characterized the incidence of B12 deficiency in newborns, the costs associated…
View article: Towards genomic-Newborn Screening: Technical feasibility of Exome Sequencing starting from dried blood spots
Towards genomic-Newborn Screening: Technical feasibility of Exome Sequencing starting from dried blood spots Open
View article: Corrigendum: Newborn screening for X-linked adrenoleukodystrophy in Italy: diagnostic algorithm and disease monitoring
Corrigendum: Newborn screening for X-linked adrenoleukodystrophy in Italy: diagnostic algorithm and disease monitoring Open
[This corrects the article DOI: 10.3389/fneur.2022.1072256.].
View article: Menkes disease complicated by concurrent ACY1 deficiency: A case report
Menkes disease complicated by concurrent ACY1 deficiency: A case report Open
Introduction: Menkes disease is an X‐linked recessive condition caused by mutations in the ATP7A gene, which leads to severe copper deficiency. Aminoacylase-1 deficiency is a rare inborn error of metabolism caused by homozygous or compound…
View article: Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring
Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring Open
Introduction X-linked adrenoleukodystrophy (X-ALD) is the most common inherited peroxisomal disorder caused by variants in the ABCD1 gene. The main phenotypes observed in men with X-ALD are primary adrenal insufficiency, adrenomyeloneuropa…
View article: Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy
Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy Open
Background Hyperphenylalaninemias (HPA) are due to several gene mutations, of which the PAH gene is the most frequently involved. Prevalence and incidence of disease vary between populations, with genotype/phenotype correlations not always…
View article: SARS-CoV-2 Seroprevalence Among School-Age Children in Milan: How Has It Changed With the Fourth Pandemic Wave?
SARS-CoV-2 Seroprevalence Among School-Age Children in Milan: How Has It Changed With the Fourth Pandemic Wave? Open
To the Editors: Starting from December 2021, Italy was hit by a new pandemic wave of SARS-CoV-2 infection, mostly sustained by the omicron variant. To date, in Italy, around 1,168,868 equals to the 9.4 % of the total SARS-CoV-2 reported ca…
View article: Does school reopening affect SARS-CoV-2 seroprevalence among school-age children in Milan?
Does school reopening affect SARS-CoV-2 seroprevalence among school-age children in Milan? Open
The benefits of schools’ closure, used as a containment strategy by many European countries, must be carefully considered against the adverse effects of child wellbeing. In this study, we assessed SARS-CoV-2 seroprevalence, which better es…
View article: Diagnosing congenital Cytomegalovirus infection: don’t get rid of dried blood spots
Diagnosing congenital Cytomegalovirus infection: don’t get rid of dried blood spots Open
View article: A New Targeted CFTR Mutation Panel Based on Next-Generation Sequencing Technology
A New Targeted CFTR Mutation Panel Based on Next-Generation Sequencing Technology Open