Evidence map›Paper›PMID 34765396›Full record

ArticleJIMD reports2021

HSD10 disease in a female: A case report and review of literature.

Jariya Upadia, Nicolette Walano, Grace S Noh, Jiao Liu, Yuwen Li, Stephen Deputy, Lindsay T Elliott, Joaquin Wong, Jennifer A Lee, Raymond C Caylor and 1 more

Open access · goldAbstract readCase Reports
In one paragraph

Article in JIMD reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
0.9field-weighted citation impact, top 25% 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

10 citing papers in PubMed, 9 citations in OpenAlex.

  1. Review
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  7. Novel Mutation in theMolecular syndromology · 2024
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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

11 authors at 3 institutions in 1 country.

Jariya UpadiaHayward Genetics Center, Department of Pediatrics Tulane University School of Medicine New Orleans Louisiana USA.ORCID https://orcid.org/0000-0002-7589-5991
Nicolette WalanoHayward Genetics Center, Department of Pediatrics Tulane University School of Medicine New Orleans Louisiana USA.
Grace S NohHayward Genetics Center, Department of Pediatrics Tulane University School of Medicine New Orleans Louisiana USA.
Jiao LiuHayward Genetics Center, Department of Pediatrics Tulane University School of Medicine New Orleans Louisiana USA.
Yuwen LiHayward Genetics Center, Department of Pediatrics Tulane University School of Medicine New Orleans Louisiana USA.
Stephen DeputyDivision of Pediatric Neurology, Department of Pediatrics Louisiana State University Health Sciences Center/Children's Hospital New Orleans Louisiana USA.
Lindsay T ElliottDepartment of Pediatric Physical Medicine and Rehabilitation Louisiana State University Health Sciences Center/Children's Hospital New Orleans Louisiana USA.
Joaquin WongDivision of Pediatric Neurology, Department of Pediatrics Louisiana State University Health Sciences Center/Children's Hospital New Orleans Louisiana USA.
Jennifer A LeeGreenwood Genetic Center Greenwood South Carolina USA.
Raymond C CaylorGreenwood Genetic Center Greenwood South Carolina USA.
Hans C AnderssonHayward Genetics Center, Department of Pediatrics Tulane University School of Medicine New Orleans Louisiana USA.
Tulane University · USChildren's Hospital of New Orleans · USGreenwood Genetic Center · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

HSD10 disease is a rare X-linked mitochondrial disorder caused by pathogenic variants in the

Indexed as

2‐methyl‐3‐hydroxy‐butyryl‐CoA dehydrogenase (MHBD) deficiencyHSD10 diseasemitochondrial disorderskewed X inactivationX‐chromosome inactivation studyX‐chromosome inactivation (XCI)

Identifiers

PMID34765396
PMCPMC8574182
OpenAlexW3199002244

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.