Evidence map›Paper›PMID 39512429›Full record

ArticleJIMD reports2024

Huppke-Brendel syndrome: Novel cases and a therapeutic trial with ketogenic diet and N-acetylcysteine.

Katarina Šikić, Tessa M A Peters, Udo Engelke, Danijela Petković Ramadža, Tamara Žigman, Ksenija Fumić, Maša Davidović, Sanda Huljev Frković, Tibor Körmendy, Diego Martinelli and 4 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in JIMD reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Review
  3. 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

14 authors.

Katarina ŠikićDepartment of Pediatrics University Hospital Center Zagreb Zagreb Croatia.ORCID https://orcid.org/0000-0002-1799-3980
Tessa M A PetersDonders Institute for Brain, Cognition and Behavior Radboud University Medical Center Nijmegen The Netherlands.
Udo EngelkeDonders Institute for Brain, Cognition and Behavior Radboud University Medical Center Nijmegen The Netherlands.
Danijela Petković RamadžaDepartment of Pediatrics University Hospital Center Zagreb Zagreb Croatia.
Tamara ŽigmanDepartment of Pediatrics University Hospital Center Zagreb Zagreb Croatia.
Ksenija FumićDepartment of Laboratory Diagnostics University Hospital Centre Zagreb Zagreb Croatia.
Maša DavidovićDepartment of Pediatrics University Hospital Center Zagreb Zagreb Croatia.
Sanda Huljev FrkovićDepartment of Pediatrics University Hospital Center Zagreb Zagreb Croatia.
Tibor KörmendyDepartment of Diagnostic Neuroradiology University Hospital Centre Zagreb Zagreb Croatia.
Diego MartinelliDivision of Metabolic Diseases, Department of Paediatric Subspecialties and Liver-Kidney Transplantation Bambino Gesù Children's Hospital Rome Italy.
Antonio NovelliTranslational Cytogenomics Research Unit Bambino Gesù Children's Hospital, IRCCS Rome Italy.
Francesca Romana LepriTranslational Cytogenomics Research Unit Bambino Gesù Children's Hospital, IRCCS Rome Italy.
Ron A WeversDonders Institute for Brain, Cognition and Behavior Radboud University Medical Center Nijmegen The Netherlands.
Ivo BarićDepartment of Pediatrics University Hospital Center Zagreb Zagreb Croatia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Huppke-Brendel syndrome (HBS) is an autosomal recessive disorder caused by

Indexed as

acetylated amino acidsacetyl‐CoA transporterHuppke–Brendel syndromeketogenic dietN‐acetylcysteineprotein acetylation

Identifiers

PMID39512429
PMCPMC11540564

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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.