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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.
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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  Data: Cerebral edema in maple syrup urine disease: spectrum of clinical presentation and treatment outcomes.
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  Data: <searchLink fieldCode="AU" term="%22Sulaiman+RA%22">Sulaiman RA</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Altassan+R%22">Altassan R</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Alshammari+R%22">Alshammari R</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Alsayed+M%22">Alsayed M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Sheikh+AN%22">Sheikh AN</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Nicolas-Jilwan+M%22">Nicolas-Jilwan M</searchLink>; Radiology Division, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Al-Owain+M%22">Al-Owain M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Al-Hassnan+Z%22">Al-Hassnan Z</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%22101266602%22">Orphanet journal of rare diseases</searchLink> [Orphanet J Rare Dis] 2025 Nov 19; Vol. 20 (1), pp. 594. <i>Date of Electronic Publication: </i>2025 Nov 19.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101266602 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1750-1172 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217501172%22">17501172 </searchLink><i>NLM ISO Abbreviation: </i>Orphanet J Rare Dis <i>Subsets: </i>MEDLINE
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        Value: 10.1186/s13023-025-04043-1
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              Text: 2025 Nov 19
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