Evidence map›Paper›PMID 40243727›Full record

ArticleInternational journal of molecular sciences2025

Clinical Features of Families with a Novel Pathogenic Mutation in Sepiapterin Reductase.

Feda E Mohamed, Lara Alzyoud, Mohammad A Ghattas, Mohammed Tabouni, André Fienemann, Joanne Trinh, Ibrahim Baydoun, Praseetha Kizhakkedath, Hiba Alblooshi, Qudsia Shaukat and 4 more

Abstract readCase Reports
In one paragraph

Article in International journal of molecular sciences, 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

14 authors.

Feda E MohamedDepartment of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain 15551, United Arab Emirates.ORCID 0000-0003-0110-2351
Lara AlzyoudCollege of Pharmacy, Al Ain University, Abu Dhabi 64141, United Arab Emirates.ORCID 0000-0001-9307-3644
Mohammad A GhattasCollege of Pharmacy, Al Ain University, Abu Dhabi 64141, United Arab Emirates.ORCID 0000-0002-2240-8037
Mohammed TabouniDepartment of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain 15551, United Arab Emirates.
André FienemannInstitute of Neurogenetics, University of Lübeck, 23538 Lübeck, Germany.ORCID 0009-0004-9594-3673
Joanne TrinhInstitute of Neurogenetics, University of Lübeck, 23538 Lübeck, Germany.
Ibrahim BaydounDepartment of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain 15551, United Arab Emirates.
Praseetha KizhakkedathDepartment of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain 15551, United Arab Emirates.ORCID 0000-0003-2687-6476
Hiba AlblooshiDepartment of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain 15551, United Arab Emirates.
Qudsia ShaukatDepartment of Pediatrics, Tawam Hospital, Al Ain 15258, United Arab Emirates.
Rim AmouriNeurology's Department, Mongi Ben Hmida National Institute of Neurology, Tunis 1007, Tunisia.
Matthew J FarrerDepartment of Neurology, University of Florida, Gainesville, FL 32611, USA.ORCID 0000-0003-1159-5321
Samia Ben SassiNeurology's Department, Mongi Ben Hmida National Institute of Neurology, Tunis 1007, Tunisia.
Fatma Al-JasmiDepartment of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain 15551, United Arab Emirates.

Funding

ASPIRE, the technology program management pillar of Abu Dhabi's Advanced Technology Re-search Council (ATRC), via the ASPIRE Precision Medicine Research Institute Abu Dhabi (AS-PIREPMRIAD) VRI-20-10the Province of British Columbia, LifeLabs and Genome BC for the Leading Edge Endowment Funds BC Leadership Chair (MJF) and Heisenberg Grant (JT)
6 · The paper itself

Abstract

Sepiapterin Reductase Deficiency (SRD) is a rare inherited neurometabolic disorder caused by variants in the

Indexed as

Alcohol OxidoreductasesMutationBiopterinsChildChild, PreschoolExome SequencingFemaleHumansMalePedigreeAlcohol OxidoreductasesBiopterinssepiapterin reductaseataxiacognitive delaydevelopmental delayneurotransmitter disordersparkinsonism

Identifiers

PMID40243727
PMCPMC11988716

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.