Evidence map›Paper›PMID 37571294›Full record

ArticleNutrients2023

Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria.

Elena Schnabel, Stefan Kölker, Florian Gleich, Patrik Feyh, Friederike Hörster, Dorothea Haas, Junmin Fang-Hoffmann, Marina Morath, Gwendolyn Gramer, Wulf Röschinger and 4 more

Open access · goldAbstract read
In one paragraph

Article in Nutrients, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
4.0field-weighted citation impact, top 5% of its field
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

12 citing papers in PubMed, 21 citations in OpenAlex.

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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

14 authors at 3 institutions in 1 country.

Elena SchnabelDivision of Child Neurology and Metabolic Medicine, Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.ORCID 0009-0008-4342-1805
Stefan KölkerDivision of Child Neurology and Metabolic Medicine, Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.ORCID 0000-0001-5188-9477
Florian GleichDivision of Child Neurology and Metabolic Medicine, Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.ORCID 0000-0001-7397-5640
Patrik FeyhDivision of Child Neurology and Metabolic Medicine, Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.
Friederike HörsterDivision of Child Neurology and Metabolic Medicine, Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.ORCID 0000-0002-3859-4161
Dorothea HaasDivision of Child Neurology and Metabolic Medicine, Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.ORCID 0000-0002-4413-7012
Junmin Fang-HoffmannDivision of Child Neurology and Metabolic Medicine, Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.
Marina MorathDivision of Child Neurology and Metabolic Medicine, Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.
Gwendolyn GramerDivision of Child Neurology and Metabolic Medicine, Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.ORCID 0000-0001-7596-6529
Wulf RöschingerLabor Becker MVZ GbR, Newborn Screening Unit, 81671 Munich, Germany.
Sven F GarbadeDivision of Child Neurology and Metabolic Medicine, Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.ORCID 0000-0002-7420-4757
Georg F HoffmannDivision of Child Neurology and Metabolic Medicine, Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.
Jürgen G OkunDivision of Child Neurology and Metabolic Medicine, Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.
Ulrike MützeDivision of Child Neurology and Metabolic Medicine, Dietmar Hopp Metabolic Center, Center for Child and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.ORCID 0000-0002-4251-7257
Heidelberg University · DEBecker Technologies (Germany) · DEUniversität Hamburg · DE

Funding

Dietmar Hopp Stiftung 1DH1911376Dietmar Hopp Stiftung 1DH2011117Dietmar Hopp Stiftung 2311220Dietmar Hopp Stiftung 2311221
6 · The paper itself

Abstract

Newborn screening (NBS) programs are effective measures of secondary prevention and have been successively extended. We aimed to evaluate NBS for methylmalonic acidurias, propionic acidemia, homocystinuria, remethylation disorders and neonatal vitamin B

Indexed as

HomocystinuriaPropionic AcidemiaVitamin B 12 DeficiencyAmino Acid Metabolism, Inborn ErrorsHumansInfant, NewbornMethylmalonic AcidNeonatal ScreeningPhenotypePilot ProjectsProspective StudiesVitamin B 12VitaminsMethylmalonic AcidVitamin B 12Vitaminscobalamin deficiencyinherited metabolic disordersneonatal screeningpropionic acidemiaremethylation disordersvitamin B12 deficiency

Identifiers

PMID37571294
PMCPMC10420807
OpenAlexW4385343090

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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.