Evidence map›Paper›PMID 36331064›Full record

ArticleMolecular genetics & genomic medicine2023

Management of methylmalonic acidemia (MMA) with N-carbamylglutamate: A case report from Italy.

Flavia Tubili, Francesca Pochiero, Maria Rosaria Curcio, Elena Procopio

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics & genomic medicine, 2023. 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
0.5field-weighted citation impact, top 35% 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, 4 citations in OpenAlex.

  1. Observational
  2. Article
  3. Review
  4. 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

4 authors at 1 institution in 1 country.

Flavia TubiliMetabolic and Neuromuscular Unit, Meyer Children Hospital, University of Florence, Florence, Italy.
Francesca PochieroMetabolic and Neuromuscular Unit, Meyer Children Hospital, University of Florence, Florence, Italy.
Maria Rosaria CurcioMetabolic and Neuromuscular Unit, Meyer Children Hospital, University of Florence, Florence, Italy.
Elena ProcopioMetabolic and Neuromuscular Unit, Meyer Children Hospital, University of Florence, Florence, Italy.
Meyer Children's Hospital · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundMethylmalonic acidemia (MMA) is an inborn error of metabolism whose optimal management, especially in the long-term remains to be established.

methodsWe describe the case of a child with MMA mut

resultsUsing the lowest effective therapeutic dose of CA and adjusting the patient's diet with caloric and protein intake adequate for her age and pathology, we managed to keep ammonium levels within the normal range, and to ensure a normal growth pattern.

conclusionThe present case adds further confirmation of the long-term management of MMA using CA, focusing on the long duration of follow up and on the use of a lower dose of CA in real life settings.

Indexed as

Amino Acid Metabolism, Inborn ErrorsHyperammonemiaChildFemaleGlutamatesHumansItalyGlutamatesN-carbamylglutamateCarglumic acidItalymethylmalonic acidemiaN-carbamylglutamate

Identifiers

PMID36331064
PMCPMC9834187
OpenAlexW4308184248

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.