Evidence map›Paper›PMID 41200580›Full record

ArticleBalkan journal of medical genetics : BJMG2025

X-Linked Adrenoleukodystrophy in a Moroccan Patient: Genetic Diagnosis Leads to Presymptomatic Testing and Family Counseling.

M Mansouri, T Smol, N Louhabe, M Rama, N Rada, N Fdil, M Bouskraoui, N Aboussair

Abstract readCase Reports
In one paragraph

Article in Balkan journal of medical genetics : BJMG, 2025. 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

8 authors.

M MansouriGenetic department, Research Clinical Center, Mohammed VI University Hospital - Marrakech.
T SmolInstitut de Génétique Médicale, CHU Lille, 59000 Lille, France.
N LouhabeNeurology Department, Mohammed VI University Hospital, Faculty of Medicine, Cadi Ayyad University - Marrakech.
M RamaInstitut de Génétique Médicale, CHU Lille, 59000 Lille, France.
N RadaPediatric Department, Mohammed VI University Hospital, Faculty of Medicine, Cadi Ayyad University - Marrakech.
N FdilMetabolic platform, Biochemistry Laboratory, Team for Childhood, Health and Development, Faculty of Medicine, Cadi Ayyad University.
M BouskraouiPediatric Department, Mohammed VI University Hospital, Faculty of Medicine, Cadi Ayyad University - Marrakech.
N AboussairGenetic department, Research Clinical Center, Mohammed VI University Hospital - Marrakech.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

X-linked adrenoleukodystrophy (X-ALD) is a fatal neurodegenerative disorder caused by mutations in the adenosine triphosphate-binding cassette D1 (ABCD1) gene. In this study, we report the case of a Moroccan patient diagnosed with X-ALD due to a mutation in the

Indexed as

ABCD1 genepresymptomatic testingX-linked adrenoleukodystrophy

Identifiers

PMID41200580
PMCPMC12588067

What OpenQuestion holds

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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.