Evidence map›Paper›PMID 39494389›Full record

ArticleMolecular genetics and metabolism reports2024

Isolated methylmalonic acidemia in Mexico: Genotypic spectrum, report of two novel MMUT variants and a possible synergistic heterozygosity effect.

Cynthia Fernández-Lainez, Marcela Vela-Amieva, Miriam Reyna-Fabián, Liliana Fernández-Hernández, Sara Guillén-López, Lizbeth López-Mejía, Miguel Ángel Alcántara-Ortigoza, Ariadna González-Del Angel, Rosa Itzel Carrillo-Nieto, Enrique Ortega-Valdez and 2 more

Abstract read
In one paragraph

Article in Molecular genetics and metabolism 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
–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

2 citing papers in PubMed.

  1. Article
  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

12 authors.

Cynthia Fernández-LainezLaboratorio de Errores Innatos del Metabolismo y Tamiz, Instituto Nacional de Pediatría, Mexico.
Marcela Vela-AmievaLaboratorio de Errores Innatos del Metabolismo y Tamiz, Instituto Nacional de Pediatría, Mexico.
Miriam Reyna-FabiánLaboratorio de Biología Molecular, Instituto Nacional de Pediatría, Mexico.
Liliana Fernández-HernándezLaboratorio de Biología Molecular, Instituto Nacional de Pediatría, Mexico.
Sara Guillén-LópezLaboratorio de Errores Innatos del Metabolismo y Tamiz, Instituto Nacional de Pediatría, Mexico.
Lizbeth López-MejíaLaboratorio de Errores Innatos del Metabolismo y Tamiz, Instituto Nacional de Pediatría, Mexico.
Miguel Ángel Alcántara-OrtigozaLaboratorio de Biología Molecular, Instituto Nacional de Pediatría, Mexico.
Ariadna González-Del AngelLaboratorio de Biología Molecular, Instituto Nacional de Pediatría, Mexico.
Rosa Itzel Carrillo-NietoLaboratorio de Errores Innatos del Metabolismo y Tamiz, Instituto Nacional de Pediatría, Mexico.
Enrique Ortega-ValdezLaboratorio de Errores Innatos del Metabolismo y Tamiz, Instituto Nacional de Pediatría, Mexico.
Mauricio Rojas-MaruriDepartamento de Patología, Instituto Nacional de Pediatría, Mexico.
Cecilia Ridaura-SanzDepartamento de Patología, Instituto Nacional de Pediatría, Mexico.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Isolated methylmalonic acidemia (iMMA) is a group of monogenic metabolic disorders affecting methylmalonate and cobalamin metabolism. Five iMMA-responsible genes have been described to date:

Indexed as

Double heterozygous, synergistic heterozygosity, methylmalonic acidInborn errors of metabolismNewborn screeningPropionate defects

Identifiers

PMID39494389
PMCPMC11530693

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.