Evidence map›Paper›PMID 34083181›Full record

ArticleBMJ case reports2021

Report of rapid diagnosis and precise management of

Vivekananda Bhat, Dhanya Lakshmi Narayanan, Anju Shukla

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

Article in BMJ case 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 91% 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, 1 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

3 authors at 1 institution in 1 country.

Vivekananda BhatMedical Genetics, Kasturba Medical College Manipal, Manipal, Karnataka, India.
Dhanya Lakshmi NarayananMedical Genetics, Kasturba Medical College Manipal, Manipal, Karnataka, India.
Anju ShuklaMedical Genetics, Kasturba Medical College Manipal, Manipal, Karnataka, India anju.shukla@manipal.edu.
Kasturba Medical College, Manipal · IN

Funding

Genetic Diagnosis of Neurodevelopmental Disorders in IndiaR01HD093570 · NICHD · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BIELAS, STEPHANIE LEE · 2018 to 2024
$2.3M
NICHD NIH HHS R01 HD093570
6 · The paper itself

Abstract

Disorders of intracellular cobalamin metabolism are a group of metabolic disorders that lead to varied clinical presentation from intrauterine life to adulthood. We report a male infant with developmental regression, macrocytic anaemia and hyperpigmentation. Exome sequencing identified a homozygous pathogenic variant in the

Indexed as

HomocystinuriaVitamin B 12 DeficiencyAdultHumansInfantIntracellular Signaling Peptides and ProteinsMaleMutationTranscription FactorsVitamin B 12Intracellular Signaling Peptides and ProteinsMMADHC protein, humanTranscription FactorsVitamin B 12geneticsgenetic screening / counsellingvitamins and supplements

Identifiers

PMID34083181
PMCPMC8183291
OpenAlexW3164543267

What OpenQuestion holds

Textmetadata
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.