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

Establishment of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in Saint Petersburg

25 Jan 2024

Abstract excerpt

Spinal muscular atrophy 5q (SMA) is one of the most common neuromuscular inherited diseases and is the most common genetic cause of infant mortality. SMA is associated with homozygous deletion of exon 7 in the SMN1 gene. Recently developed drugs can improve the motor functions of infants with SMA when they are treated in the pre-symptomatic stage. With aim of providing an early diagnosis, newborn screening (NBS)...

Read the complete abstract on PubMed

Topics

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

Share to Congenital Anomalies and Fetal Surgery
Share to Neurogenetic and Muscular Disorders Research
Share to RNA modifications and cancer

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 38390973
DOI: 10.3390/ijns10010009

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Establishment of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in Saint PetersburgPMID 38390973Read ↗

Establishment of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in Saint-PetersburgSemantic proximity Read ↗

Outcomes of A Pilot Newborn Screening Program for Spinal Muscular Atrophy in A Spanish RegionSemantic proximity Read ↗

Neonatal screening for spinal muscular atrophy: A pilot study in BrazilSemantic proximity Read ↗

Results of the Hungarian Newborn Screening Pilot Program for Spinal Muscular AtrophySemantic proximity Read ↗

Mutation analysis of 419 family and prenatal diagnosis of 339 cases of spinal muscular atrophy in ChinaSemantic proximity Read ↗

Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium.Semantic proximity Read ↗

Mutation analysis of 419 family and prenatal diagnosis of 339 cases of spinal muscular atrophy in China.Semantic proximity Read ↗

Carrier Screening and Prenatal Diagnosis for Spinal Muscular Atrophy in 13,069 Chinese Pregnant Women.Semantic proximity Read ↗

Newborn Screening for SMA - Results After Two Years of a Large Pilot Project Semantic proximity Read ↗

A Novel System for Spinal Muscular Atrophy Screening in Newborns: Japanese Pilot StudySemantic proximity Read ↗

Analysis of spinal muscular atrophy carrier screening results in 32,416 pregnant women and 7,231 prepregnant womenSemantic proximity Read ↗

Molecular diagnosis and genetic counseling for spinal muscular atrophy (SMA).Semantic proximity Read ↗

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