Evidence map›Paper›PMID 42371568›Full record

ArticleJIMD reports2026

Long-Term Follow-Up of Patients With Mitochondrial Carbonic Anhydrase VA Deficiency. A Case Report and Literature Review.

Shaymaa Shurrab, Amira Mobarak, Gabriella Horvath, Sylvia Stocker-Ipsiroglu, Clara van Karnebeek, Ramona Salvarinova-Zivkovic

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in JIMD reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

6 authors.

Shaymaa ShurrabDivision of Genetics and Metabolics, Department of Pediatrics McMaster University Hamilton Ontario Canada.
Amira MobarakDivision of Medical Biochemical Genetics, Department of Pediatrics Tanta University Tanta Egypt.
Gabriella HorvathDivision of Biochemical Genetics, Department of Pediatrics, Faculty of Medicine University of British Columbia Vancouver British Columbia Canada.
Sylvia Stocker-IpsirogluDivision of Biochemical Genetics, Department of Pediatrics, Faculty of Medicine University of British Columbia Vancouver British Columbia Canada.
Clara van KarnebeekBritish Columbia Children's Hospital Research Institute Vancouver British Columbia Canada.
Ramona Salvarinova-ZivkovicDivision of Biochemical Genetics, Department of Pediatrics, Faculty of Medicine University of British Columbia Vancouver British Columbia Canada.ORCID https://orcid.org/0000-0002-8132-9136

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mitochondrial carbonic anhydrase VA (CA-VA) deficiency is a rare inherited metabolic disorder caused by biallelic variants of the

Indexed as

CA‐VA deficiencyencephalopathyhyperammonemiaketoacidosislactic acidosislong‐term outcomes

Identifiers

PMID42371568
PMCPMC13310582

What OpenQuestion holds

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Registered trials

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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.