Evidence map›Paper›PMID 38736634›Full record

ArticleJIMD reports2024

Late-onset refractory hemolytic anemia in siblings treated for methionine synthase reductase deficiency: A rare complication possibly prevented by hydroxocobalamin dose escalation?

Alexandre Nguyen, Samuel Deshayes, Marie Nowoczyn, Apolline Imbard, Lamisse Mansour-Hendili, Alexandre Cesbron, Jean François Benoist, Manuel Schiff

Abstract readCase Reports
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 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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.

Alexandre NguyenDepartment of Internal Medicine and Clinical Immunology Normandie Univ, UNICAEN, CHU Caen Normandie Caen France.
Samuel DeshayesDepartment of Internal Medicine and Clinical Immunology Normandie Univ, UNICAEN, CHU Caen Normandie Caen France.
Marie NowoczynBiochemistry Laboratory CHU Caen Normandie Caen France.
Apolline ImbardBiochemistry Laboratory Necker University Hospital, APHP Paris France.
Lamisse Mansour-HendiliLBM SeqOIA Paris France.
Alexandre CesbronBiochemistry Laboratory CHU Caen Normandie Caen France.
Jean François BenoistBiochemistry Laboratory Necker University Hospital, APHP Paris France.
Manuel SchiffReference Center for Inherited Metabolic Diseases Necker University Hospital, APHP and University of Paris Cité Paris France.ORCID https://orcid.org/0000-0001-8272-232X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Methionine synthase reductase deficiency (cblE) is a rare autosomal recessive inborn error of cobalamin metabolism caused by pathogenic variants in the methionine synthase reductase gene (

Indexed as

cblEhemolysishemolytic anemiahydroxocobalaminLDHmethionine synthase reductaseMTRRremethylation disorders

Identifiers

PMID38736634
PMCPMC11078714

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.