Article

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

2023-02-28

Abstract excerpt

Spinal muscular atrophy 5q (SMA) is the most common neuromuscular inherited disease in neonates which is associated with homozygous deletion of exon 7 in the SMN1 gene. Recently established drugs can improve the motor functions of SMA infants when treated in the pre-symptomatic stage. With aim of providing an early diagnosis, newborn screening (NBS) for SMA using real-time PCR assay with dried blood spots (DBS) wa...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 0679160d-f95b-5109-8342-54be87acfe21
DOI: 10.20944/preprints202302.0500.v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Establishment of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in Saint-PetersburgDOI 10.20944/preprints202302.0500.v1Read

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

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

Outcomes of A Pilot Newborn Screening Program for Spinal Muscular Atrophy in A Spanish RegionSemantic 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 ChinaSemantic 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 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

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

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