Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Newborn screening in mucopolysaccharidoses

1 Nov 2018

Abstract excerpt

Newborn screening (NBS) methods and therapeutic options have become increasingly available for mucopolysaccharidoses (MPS), and there is a clear evidence that early intervention significantly improves the outcome. It is recommended that mucopolysaccharidosis type I (MPS I) is included in the US newborn screening panel, and this is currently underway in some NBS programs in the world. The key factors in...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Glycogen Storage Diseases and Myoclonus
Share to Lysosomal Storage Disorders Research
Share to Metabolism and Genetic Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 30442156
DOI: 10.1186/s13052-018-0552-3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Newborn screening in mucopolysaccharidosesPMID 30442156Read ↗

Mucopolysaccharidosis type I newborn screening: Importance of second tier testing for ethnically diverse populations.Semantic proximity Read ↗

Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type ISemantic proximity Read ↗

First pilot newborn screening for four lysosomal storage diseases in an Italian region: identification and analysis of a putative causative mutation in the GBA gene.Semantic proximity Read ↗

Enzymatic Testing for Mucopolysaccharidosis Type I in Kuwaiti Newborns: A Pilot Study Toward Newborn ScreeningSemantic proximity Read ↗

Identification of Infants at Risk for Developing Fabry, Pompe, or Mucopolysaccharidosis-I from Newborn Blood Spots by Tandem Mass SpectrometrySemantic proximity Read ↗

Long-Term Health Outcomes of Individuals With Pseudodeficiency Alleles in IDUA May Inform Newborn Screening Practices for Mucopolysaccharidosis Type I.Semantic proximity Read ↗

Mucopolysaccharidosis type I: clinical and biochemical study.Semantic proximity Read ↗

Recent advances in the prenatal diagnosis of the mucopolysaccharidoses.Semantic proximity Read ↗

High Incidence of Partial Biotinidase Deficiency in the First 3 Years of a Regional Newborn Screening Program in Italy.Semantic proximity Read ↗

Mucopolysaccharidosis type I: founder effect of the p.P533R mutation in North Africa.Semantic proximity Read ↗

Molecular prenatal diagnosis of muscular dystrophies in Tunisia and postnatal follow-up role.Semantic proximity Read ↗

Ethical Issues with Newborn Screening in the Genomics EraSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.