ArticleMolecular genetics and metabolism reports2017
Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil.
Article in Molecular genetics and metabolism reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed.
- Newborn screening and rapid genomic diagnosis of neuromuscular diseases.Journal of neuromuscular diseases · 2025Review
- Consensus-based expert recommendations on the management of MPS IVa and VI in Saudi Arabia.Orphanet journal of rare diseases · 2024Article
- Mutational spectrum and genotype-phenotype correlation in Mexican patients with infantile-onset and late-onset Pompe disease.Molecular genetics & genomic medicine · 2024Article
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
- Newborn screening for Pompe disease in Italy: Long-term results and future challenges.Molecular genetics and metabolism reports · 2022Article
- A Roadmap for Potential Improvement of Newborn Screening for Inherited Metabolic Diseases Following Recent Developments and Successful Applications of Bivariate Normal Limits for Pre-Symptomatic Detection of MPS I, Pompe Disease, and Krabbe Disease.International journal of neonatal screening · 2022Review
- Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients.Journal of molecular neuroscience : MN · 2022Article
- Selective screening for lysosomal storage disorders in a large cohort of minorities of African descent shows high prevalence rates and novel variants.JIMD reports · 2021Article
- Epidemiology of Mucopolysaccharidoses Update.Diagnostics (Basel, Switzerland) · 2021Review
- Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.Human mutation · 2021Article
- Comprehensive Genetic Analysis of 128 Candidate Genes in a Cohort With Idiopathic, Severe, or Familial Osteoporosis.Journal of the Endocrine Society · 2020Article
- Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives.International journal of neonatal screening · 2020Review
- A Biochemical Platform to Define the Relative Specific Activity ofInternational journal of neonatal screening · 2020Article
- Report of Five Years of Experience in Neonatal Screening for Mucopolysaccharidosis Type I and Review of the Literature.International journal of neonatal screening · 2020Article
- Precision Medicine for Lysosomal Disorders.Biomolecules · 2020Review
- Newborn screening of mucopolysaccharidoses: past, present, and future.Journal of human genetics · 2020Review
- Newborn Screening for Pompe Disease.International journal of neonatal screening · 2020Review
- Emerging Approaches for Fluorescence-Based Newborn Screening of Mucopolysaccharidoses.Diagnostics (Basel, Switzerland) · 2020Review
- Diagnosis of Mucopolysaccharidoses.Diagnostics (Basel, Switzerland) · 2020Review
- Mucopolysaccharidosis Type I.Diagnostics (Basel, Switzerland) · 2020Review
Corrections and comments
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Authors and funding
17 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Lysosomal storage diseases (LSDs) are genetic disorders, clinically heterogeneous, mainly caused by defects in genes encoding lysosomal enzymes that degrade macromolecules. Several LSDs already have specific therapies that may improve clinical outcomes, especially if introduced early in life. With this aim, screening methods have been established and newborn screening (NBS) for some LSDs has been developed. Such programs should include additional procedures for the confirmation (or not) of the cases that had an abnormal result in the initial screening. We present here the methods and results of the additional investigation performed in four babies with positive initial screening results in a program of NBS for LSDs performed by a private laboratory in over 10,000 newborns in Brazil. The suspicion in these cases was of Mucopolysaccharidosis I - MPS I (in two babies), Pompe disease and Gaucher disease (one baby each). One case of pseudodeficiency for MPS I, 1 carrier for MPS I, 1 case of pseudodeficiency for Pompe disease and 1 carrier for Gaucher disease were identified. This report illustrates the challenges that may be encountered by NBS programs for LSDs, and the need of a comprehensive protocol for the rapid and precise investigation of the babies who have an abnormal screening result.
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