Evidence map›Paper›PMID 34646737›Full record

ArticleMolecular genetics and metabolism reports2021

Novel mutation causing propionic acidemia associated with unexplained autoimmune thyrotoxicosis.

Nida Fatima Sakrani, Hala Kul Hasan, Ahmed Ibrahim, Jamal Al Jubeh, Amal Al Teneiji

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

Article in Molecular genetics and metabolism reports, 2021. 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, top 82% 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

1 citing paper in PubMed, 0 citations in OpenAlex.

  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

5 authors at 1 institution in 1 country.

Nida Fatima SakraniGeneral Pediatrics, Department of Pediatrics, Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates.
Hala Kul HasanGeneral Pediatrics, Department of Pediatrics, Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates.
Ahmed IbrahimDivision of Pediatric Endocrinology, Department of Pediatrics, Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates.
Jamal Al JubehDivision of Pediatric Endocrinology, Department of Pediatrics, Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates.
Amal Al TeneijiDivision of Metabolic and Genetics, Department of Pediatrics, Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates.
Shaikh Khalifa Medical City · AE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Propionic acidemia (PA) is a rare autosomal recessive inborn error of metabolism (IEM) with relatively higher prevalence in the United Arab Emirates (UAE). Absence of propionyl-CoA carboxylase (PCC) enzyme classically leads to acute decompensation in the early neonatal period. We report a novel homozygous frameshift variant

Indexed as

AA, Amino AcidsC3, proprionylcarnitineFT3/FT4, Free T3/Free T4G-CSF, growth colony stimulating factorHD, hemodialysisHyperammonemiaHyperthyroidismIEM, Inborn Errors of MetabolismMetabolic acidosisMMA, methlymalonic acidMRI, Magnetic Resonance ImagingNeonateOA, Organic AcidsPA, Propionic AcidemaPCC, Propionyl-CoA CarboxylasePICU, pediatric intensive care unitPropionic acidemiaThyrotoxicosisTPN, Total parenteral nutritionTPO, Thyroid PeroxidaseTRAB, Thyroid Receptor AntibodiesTSH, Thyroid Stimulating HormoneTSI, Thyroid Stimulating ImmunoglobulinsUAE, United Arab Emirates

Identifiers

PMID34646737
PMCPMC8498454
OpenAlexW3206460216

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.