Cerebral edema in maple syrup urine disease: spectrum of clinical presentation and treatment outcomes.
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| Title: | Cerebral edema in maple syrup urine disease: spectrum of clinical presentation and treatment outcomes. |
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| Authors: | Sulaiman RA; Department of Medical Genomics, MBC: 75, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, PO Box No: 3354, 11211, Riyadh, Saudi Arabia. rsulaiman@kfshrc.edu.sa.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia. rsulaiman@kfshrc.edu.sa., Altassan R; Department of Medical Genomics, MBC: 75, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, PO Box No: 3354, 11211, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Alshammari R; Department of Medical Genomics, MBC: 75, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, PO Box No: 3354, 11211, Riyadh, Saudi Arabia., Alsayed M; Department of Medical Genomics, MBC: 75, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, PO Box No: 3354, 11211, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Sheikh AN; Department of Medicine, Medical Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Nicolas-Jilwan M; Radiology Division, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Al-Owain M; Department of Medical Genomics, MBC: 75, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, PO Box No: 3354, 11211, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Al-Hassnan Z; Department of Medical Genomics, MBC: 75, Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, PO Box No: 3354, 11211, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia. |
| Source: | Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Nov 19; Vol. 20 (1), pp. 594. Date of Electronic Publication: 2025 Nov 19. |
| Publication Type: | Journal Article; Review |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1750-1172 |
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| DOI: | 10.1186/s13023-025-04043-1 |
