ArticleInternational journal of neonatal screening2019
Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy.
Article in International journal of neonatal screening, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers, 2 of them syntheses that pooled it.
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Who cites it
50 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1.Orphanet journal of rare diseases · 2022Guideline
- Value of Glucosylsphingosine (Lyso-Gb1) as a Biomarker in Gaucher Disease: A Systematic Literature Review.International journal of molecular sciences · 2020Pooled it
- Progress and Prospects of Newborn Screening in China.International journal of neonatal screening · 2026Review
- Family studies in Gaucher Disease: a key resource for early diagnosis and personalized treatment strategies.Orphanet journal of rare diseases · 2026Article
- A suspicion index tool to aid the diagnosis and treatment of ASMD.Orphanet journal of rare diseases · 2026Article
- Integrating the Genomic Revolution into Newborn Screening: Current Challenges and Future Perspectives.Pediatric reports · 2026Review
- Lyso-Gb3 in a Fabry pediatric cohort diagnosed by newborn screening.Genetics in medicine open · 2026Article
- Newborn Screening in Fabry Disease.International journal of molecular sciences · 2025Review
- High-Resolution Mass Spectrometry Method for Targeted Screening and Monitoring of Fabry, Gaucher and ASMD Using Dried Blood Spots and Capitainers: Impact of Sample Matrix on Measurement Results.International journal of molecular sciences · 2025Article
- Identification of Novel Mutations in Patients Affected by Gaucher Disease.International journal of molecular sciences · 2025Article
- Prospective Monitoring of Lyso-Gb1 on DBS Sample in Three Children Recognized at Newborn Screening for Gaucher Disease and Untreated.Children (Basel, Switzerland) · 2025Article
- Natural history of inflammation and impaired autophagy in children with Gaucher disease identified by newborn screening.Molecular genetics and metabolism reports · 2025Article
- Newborn screening and rapid genomic diagnosis of neuromuscular diseases.Journal of neuromuscular diseases · 2025Review
- Newborn Screening for Gaucher Disease: Parental Stress and Psychological Burden.International journal of neonatal screening · 2025Article
- Newborn Screening for Acid Sphingomyelinase Deficiency: Prevalence and Genotypic Findings in Italy.International journal of neonatal screening · 2024Article
- Application of tandem mass spectrometry in the screening and diagnosis of mucopolysaccharidoses.Orphanet journal of rare diseases · 2024Review
- Gaucher Disease or Acid Sphingomyelinase Deficiency? The Importance of Differential Diagnosis.Journal of clinical medicine · 2024Article
- The Importance of Early Treatment of Inherited Neuromuscular Conditions.Journal of neuromuscular diseases · 2024Review
- A new multiplex analysis of glucosylsphingosine and globotriaosylsphingosine in dried blood spots by tandem mass spectrometry.Molecular genetics and metabolism reports · 2023Article
- Noninvasive DBS-Based Approaches to Assist Clinical Diagnosis and Treatment Monitoring of Gaucher Disease.Biomedicines · 2023Article
Corrections and comments
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The increasing availability of treatments and the importance of early intervention have stimulated interest in newborn screening for lysosomal storage diseases. Since 2015, 112,446 newborns in North Eastern Italy have been screened for four lysosomal disorders-mucopolysaccharidosis type I and Pompe, Fabry and Gaucher diseases-using a multiplexed tandem mass spectrometry (MS/MS) assay system. We recalled 138 neonates (0.12%) for collection of a second dried blood spot. Low activity was confirmed in 62 (0.06%), who underwent confirmatory testing. Twenty-five neonates (0.02%) were true positive: eight with Pompe disease; seven with Gaucher disease; eight with Fabry disease; and two with Mucopolysaccharidosis type I. The combined incidence of the four disorders was 1 in 4497 births. Except for Pompe disease, a second-tier test was implemented. We conclude that newborn screening for multiple lysosomal storage diseases combined with a second-tier test can largely eliminate false-positives and achieve rapid diagnosis.
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