Evidence map›Paper›PMID 39846593›Full record

ArticleInternational journal of neonatal screening2025

Outcomes of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in the Valencian Community.

Alba Berzal-Serrano, Belén García-Bohórquez, Elena Aller, Teresa Jaijo, Inmaculada Pitarch-Castellano, Dolores Rausell, Gema García-García, José M Millán

Abstract read
In one paragraph

Article in International journal of neonatal screening, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

6 citing papers in PubMed.

  1. Article
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  6. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors.

Alba Berzal-SerranoCellular, Molecular and Genomics Biomedicine Group, La Fe Health Research Institute, 46026 Valencia, Spain.
Belén García-BohórquezCellular, Molecular and Genomics Biomedicine Group, La Fe Health Research Institute, 46026 Valencia, Spain.
Elena AllerCellular, Molecular and Genomics Biomedicine Group, La Fe Health Research Institute, 46026 Valencia, Spain.
Teresa JaijoCellular, Molecular and Genomics Biomedicine Group, La Fe Health Research Institute, 46026 Valencia, Spain.ORCID 0000-0003-0973-9146
Inmaculada Pitarch-CastellanoNeuropediatric Unit, Department of Paediatrics, La Fe University and Polytechnic Hospital, 46026 Valencia, Spain.ORCID 0000-0002-3864-7374
Dolores RausellClinical Analysis Service, Metabolic Disorders Laboratory, La Fe University and Polytechnic Hospital, 46026 Valencia, Spain.ORCID 0000-0001-5784-7526
Gema García-GarcíaCellular, Molecular and Genomics Biomedicine Group, La Fe Health Research Institute, 46026 Valencia, Spain.ORCID 0000-0002-2113-0600
José M MillánCellular, Molecular and Genomics Biomedicine Group, La Fe Health Research Institute, 46026 Valencia, Spain.ORCID 0000-0002-7211-9129

Funding

Generalitat Valenciana ACIF/2021/057Instituto de Salud Carlos III CP22/00028Novartis Gene Therapies, Inc. (United States) 2020-517-1
6 · The paper itself

Abstract

Spinal muscular atrophy (SMA) is a degenerative neuromuscular condition resulting from a homozygous deletion of the survival motor neuron 1 (

Indexed as

dried blood spotmultiplex qPCRnewborn screeningSMN1spinal muscular atrophy

Identifiers

PMID39846593
PMCPMC11755645

What OpenQuestion holds

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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.