Evidence map›Paper›PMID 38444578›Full record

ArticleJIMD reports2024

5,10-methenyltetrahydrofolate synthetase deficiency: An extreme rare defect of folate metabolism in two Dutch siblings.

Lelde Liepina, Desiree E C Smith, Hidde Huidekoper, Shimriet Zeidler, Mirjam Wamelink, Marie-Claire de Wit, Martina Wilke, George Ruijter, Jörgen Bierau, Henk J Blom

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PubMed Full text at PMC Publisher
In one paragraph

Article in JIMD reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.5field-weighted citation impact, top 40% 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

2 citing papers in PubMed, 1 citations in OpenAlex.

  1. Review
  2. 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

10 authors at 2 institutions in 1 country.

Lelde LiepinaDepartment of Clinical Genetics, Center for Lysosomal and Metabolic Diseases Erasmus University Medical Center Rotterdam The Netherlands.
Desiree E C SmithMetabolic Laboratory, Department of Clinical Chemistry, Amsterdam Neuroscience VU University Medical Center Amsterdam The Netherlands.
Hidde HuidekoperDepartment of Pediatrics, Center for Lysosomal and Metabolic Diseases Erasmus University Medical Center Rotterdam The Netherlands.
Shimriet ZeidlerDepartment of Clinical Genetics, Center for Lysosomal and Metabolic Diseases Erasmus University Medical Center Rotterdam The Netherlands.
Mirjam WamelinkMetabolic Laboratory, Department of Clinical Chemistry, Amsterdam Neuroscience VU University Medical Center Amsterdam The Netherlands.
Marie-Claire de WitDepartment of Child Neurology Sophia Children's Hospital, Erasmus University Medical Center Rotterdam The Netherlands.
Martina WilkeDepartment of Clinical Genetics, Center for Lysosomal and Metabolic Diseases Erasmus University Medical Center Rotterdam The Netherlands.
George RuijterDepartment of Clinical Genetics, Center for Lysosomal and Metabolic Diseases Erasmus University Medical Center Rotterdam The Netherlands.
Jörgen BierauDepartment of Clinical Genetics, Center for Lysosomal and Metabolic Diseases Erasmus University Medical Center Rotterdam The Netherlands.
Henk J BlomDepartment of Clinical Genetics, Center for Lysosomal and Metabolic Diseases Erasmus University Medical Center Rotterdam The Netherlands.ORCID https://orcid.org/0000-0001-5202-9241
Erasmus MC · NLAmsterdam Neuroscience · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Two siblings, presenting with a neurometabolic phenotype, were identified with 5, 10-methenyltetrahydrofolate synthetase (MTHFS) deficiency. Whole genome sequencing in both patients demonstrated an homozygous

Indexed as

5,10‐methenyltetrahydrofolate synthetasecerebral hypomyelinationfolateMTHFSneurometabolic

Identifiers

PMID38444578
PMCPMC10910211
OpenAlexW4390884758

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.