Evidence map›Paper›PMID 38535121›Full record

ArticleInternational journal of neonatal screening2024

New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center.

Gwendolyn Gramer, Saskia B Wortmann, Junmin Fang-Hoffmann, Dirk Kohlmüller, Jürgen G Okun, Holger Prokisch, Thomas Meitinger, Georg F Hoffmann

Open access · goldAbstract read
In one paragraph

Article in International journal of neonatal screening, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.1field-weighted citation impact, top 24% 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

4 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. Review
  3. Variants inGenes · 2025
    Review
  4. Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide.International journal of neonatal screening · 2024
    Article
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 at 4 institutions in 2 countries.

Gwendolyn GramerUniversity Medical Center Hamburg-Eppendorf, Department for Inborn Metabolic Diseases, University Children's Hospital, Martinistraße 52, 20246 Hamburg, Germany.ORCID 0000-0001-7596-6529
Saskia B WortmannInstitute of Human Genetics, Klinikum Rechts der Isar, School of Medicine, Technical University Munich, Trogerstrasse 32, 81675 Munich, Germany.ORCID 0000-0002-1968-8103
Junmin Fang-HoffmannCenter for Pediatric and Adolescent Medicine, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.
Dirk KohlmüllerCenter for Pediatric and Adolescent Medicine, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.ORCID 0000-0002-8709-1771
Jürgen G OkunCenter for Pediatric and Adolescent Medicine, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.
Holger ProkischInstitute of Human Genetics, Klinikum Rechts der Isar, School of Medicine, Technical University Munich, Trogerstrasse 32, 81675 Munich, Germany.ORCID 0000-0003-2379-6286
Thomas MeitingerInstitute of Human Genetics, Klinikum Rechts der Isar, School of Medicine, Technical University Munich, Trogerstrasse 32, 81675 Munich, Germany.
Georg F HoffmannCenter for Pediatric and Adolescent Medicine, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.ORCID 0000-0002-6593-896X
Heidelberg University · DETUM Klinikum · DEParacelsus Medical University · ATUniversität Hamburg · DE

Funding

Dietmar Hopp Stiftung 2 311 220 / 1DH1911376
6 · The paper itself

Abstract

Newborn screening (NBS) for hepatorenal tyrosinemia type I (HT1) based on a determination of succinylacetone is performed in countries worldwide. Recently, biallelic pathogenic variants in

Indexed as

GSTZ1maleylacetoacetate isomerase deficiencynewborn screeningsuccinylacetonetyrosinemia type I

Identifiers

PMID38535121
PMCPMC10970868
OpenAlexW4392192397

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.