Evidence map›Paper›PMID 37323222›Full record

ArticleMolecular genetics and metabolism reports2023

Clinical, biochemical and molecular characterization of Wilson's disease in Moroccan patients.

Karima Lafhal, Es-Said Sabir, Abdelmalek Hakmaoui, Miloud Hammoud, Abdelmohcine Aimrane, Samira Najeh, Imane Assiri, Abdelaati Berrachid, Najwa Imad, Chaima Ait Boujemaa and 11 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics and metabolism reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.1field-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

4 citing papers in PubMed, 7 citations in OpenAlex.

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  4. Spectrum and classification ofSaudi medical journal · 2025
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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

21 authors at 4 institutions in 2 countries.

Karima LafhalMetabolic Platform, Biochemistry Laboratory, Faculty of Medicine, Cadi Ayad University, Marrakech, Morocco.
Es-Said SabirMetabolic Platform, Biochemistry Laboratory, Faculty of Medicine, Cadi Ayad University, Marrakech, Morocco.
Abdelmalek HakmaouiCenter of Clinical Research, University Hospital Mohammed VI, Marrakech, Morocco.
Miloud HammoudMetabolic Platform, Biochemistry Laboratory, Faculty of Medicine, Cadi Ayad University, Marrakech, Morocco.
Abdelmohcine AimraneMetabolic Platform, Biochemistry Laboratory, Faculty of Medicine, Cadi Ayad University, Marrakech, Morocco.
Samira NajehMetabolic Platform, Biochemistry Laboratory, Faculty of Medicine, Cadi Ayad University, Marrakech, Morocco.
Imane AssiriMetabolic Platform, Biochemistry Laboratory, Faculty of Medicine, Cadi Ayad University, Marrakech, Morocco.
Abdelaati BerrachidMetabolic Platform, Biochemistry Laboratory, Faculty of Medicine, Cadi Ayad University, Marrakech, Morocco.
Najwa ImadMother-Child Hospital, Pediatric Department, Mohammed VI University Hospital, Cadi Ayad University, Marrakesh, Morocco.
Chaima Ait BoujemaaCenter of Clinical Research, University Hospital Mohammed VI, Marrakech, Morocco.
Faissal AzizNational Center for Study and Research on Water and Energy, PO Box 511, Cadi Ayyad University, Marrakech., Morocco.
Fatima Zahra El HanafiMother-Child Hospital, Pediatric Department, Mohammed VI University Hospital, Cadi Ayad University, Marrakesh, Morocco.
Abdessamad LalaouiMother-Child Hospital, Pediatric Department, Mohammed VI University Hospital, Cadi Ayad University, Marrakesh, Morocco.
Hasna AamriMother-Child Hospital, Pediatric Department, Mohammed VI University Hospital, Cadi Ayad University, Marrakesh, Morocco.
Iryna BoykoLaboratory of Rare Neurodegenerative Diseases, Príncipe Felipe Research Center (CIPF), Valencia, Spain.
Ana Sánchez-MonteagudoLaboratory of Rare Neurodegenerative Diseases, Príncipe Felipe Research Center (CIPF), Valencia, Spain.
Carmen EspinósLaboratory of Rare Neurodegenerative Diseases, Príncipe Felipe Research Center (CIPF), Valencia, Spain.
Imane Ait SabMother-Child Hospital, Pediatric Department, Mohammed VI University Hospital, Cadi Ayad University, Marrakesh, Morocco.
Nisrine AboussairDepartment of Medical Genetics, Mohammed VI University Hospital, Cadi Ayad University, Marrakesh, Morocco.
Aicha BourrahouatMother-Child Hospital, Pediatric Department, Mohammed VI University Hospital, Cadi Ayad University, Marrakesh, Morocco.
Naima FdilMetabolic Platform, Biochemistry Laboratory, Faculty of Medicine, Cadi Ayad University, Marrakech, Morocco.
Cadi Ayyad University · MACentre Hospitalier Universitaire Mohammed VI · MACentro de Investigacion Principe Felipe · ESUniversitat de València · ES

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Wilson Disease (WD) is an autosomal recessive inherited metabolic disease caused by mutations in the Methods: In this study, the presented symptoms of WD, the biochemical parameters as well as its natural history are described based on cases collected in Mohammed VI Hospital University of Marrakech (Morocco). We screened and sequenced 21 exons of Results: Mutational assessment of the Conclusion: Our study is the first molecular analysis in Moroccan patients with Wilson's disease, the

Indexed as

ATP7B geneMolecular genetic diagnosisMutationsWilson disease

Identifiers

PMID37323222
PMCPMC10267639
OpenAlexW4379643906

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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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.