ArticleFrontiers in pediatrics2021
The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data.
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In one paragraph
Article in Frontiers in pediatrics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed, 1 pooled it
1.9field-weighted citation impact, top 13% of its field
What it found
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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.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 26 citations in OpenAlex.
- The natural history and burden of illness of metachromatic leukodystrophy: a systematic literature review.European journal of medical research · 2024Pooled it
- Overview of genetic variants in a cohort of Iranian patients with leukodystrophy.Scientific reports · 2025Article
- The landscape of pediatric genetic white matter disorders at a tertiary referral hospital in Upper Egypt and the report of 31 novel variants.Italian journal of pediatrics · 2025Article
- Vanishing White Matter Disease in Children: An Unusual Association, a Novel Mutation, and a Literature Review.Cureus · 2024Article
- Developmental Delay, Hypomyelination, and Nystagmus: Case and Approach.Neuro-ophthalmology (Aeolus Press) · 2024Article
- The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients.Brain : a journal of neurology · 2023Article
- Clinical and molecular characterization of a large primary hyperoxaluria cohort from Saudi Arabia: a retrospective study.Pediatric nephrology (Berlin, Germany) · 2023Article
- Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions.Frontiers in neurology · 2023Review
- Non-invasive prenatal testing for autosomal recessive disorders: A new promising approach.Frontiers in genetics · 2022Article
- Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles.Frontiers in genetics · 2022Article
- HMG-CoA Lyase Deficiency: A Retrospective Study of 62 Saudi Patients.Frontiers in genetics · 2022Article
- Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities.Clinical genetics · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
29 authors at 9 institutions in 2 countries.
Majid AlfadhelDivision of Medical Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.
Mohammed AlmuqbilCollege of Medicine, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.
Fuad Al MutairiDivision of Medical Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.
Muhammad UmairMedical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia.
Mohammed AlmannaiSection of Medical Genetics, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
Malak AlghamdiMedical Genetics Division, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Hamad AlthiyabDivision of Medical Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.
Rayyan AlbarakatiDivision of Medical Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.
Fahad A BashiriDivision of Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Walaa AlshuaibiMedical Genetics Division, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Duaa Ba-ArmahCollege of Medicine, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.
Mohammed A SalehSection of Medical Genetics, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
Ali Al-AsmariSection of Medical Genetics, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
Eissa FaqeihSection of Medical Genetics, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
Waleed AltuwaijriCollege of Medicine, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.
Ahmed Al-RumayyanCollege of Medicine, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.
Mohammed Ali BalwiMedical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia.
Faroug AbabnehDivision of Medical Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.
Abdulrahman Faiz AlswaidDivision of Medical Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.
Wafaa M EyaidDivision of Medical Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.
Naif A M AlmontashiriCenter for Genetics and Inherited Diseases, Taibah University, Almadinah Almunwarah, Saudi Arabia.
Amal AlhashemDivision of Genetics, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
Khalid HundallahDivision of Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
Aida Bertoli-AvellaCENTOGENE AG, Rostock, Germany.
Peter BauerCENTOGENE AG, Rostock, Germany.
Christian BeetzCENTOGENE AG, Rostock, Germany.
Muhammad Talal AlrifaiCollege of Medicine, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.
Ahmed AlfaresPathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
Brahim TabarkiDivision of Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
King Abdulaziz Medical City · SACentogene (Germany) · DEKing Saud bin Abdulaziz University for Health Sciences · SAKing Saud University · SARiyadh Armed Forces Hospital · SAKing Abdullah International Medical Research Center · SANational Guard Health Affairs · SAQassim University · SATaibah University · SA
Funding
No grant is acknowledged in the PubMed record.
Abstract
PubMed holds no abstract for this paper.
Indexed as
leukodystrophymetachromatic leukodystrophyneurometabolicnovel mutationsSaudi Arabia
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY
Read underepoch 390
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.