ArticleDiagnostic and interventional radiology (Ankara, Turkey)
MRI and clinical features of maple syrup urine disease: preliminary results in 10 cases.
Article in Diagnostic and interventional radiology (Ankara, Turkey). The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed.
- Cerebral edema in maple syrup urine disease: spectrum of clinical presentation and treatment outcomes.Orphanet journal of rare diseases · 2025Review
- Phenotypic diversity in NAXE mutations.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- α-Ketoisocaproic Acid Disrupts Mitochondrial Bioenergetics in the Brain of Neonate Rats: Molecular Modeling Studies of α-ketoglutarate Dehydrogenase Subunits Inhibition.Neurochemical research · 2025Article
- In Vivo Intracerebral Administration of α-Ketoisocaproic Acid to Neonate Rats Disrupts Brain Redox Homeostasis and Promotes Neuronal Death, Glial Reactivity, and Myelination Injury.Molecular neurobiology · 2024Article
- Memantine Improves Memory and Neurochemical Damage in a Model of Maple Syrup Urine Disease.Neurochemical research · 2024Article
- The clinico-radiological findings of MSUD in a group of Egyptian children: Contribution to early diagnosis and outcome.Molecular genetics & genomic medicine · 2021Article
- Brain magnetic resonance imaging findings and radiologic review of maple syrup urine disease: Report of three cases.World journal of clinical cases · 2021Article
- Brain Branched-Chain Amino Acids in Maple Syrup Urine Disease: Implications for Neurological Disorders.International journal of molecular sciences · 2020Review
- Case report: maple syrup urine disease with a novel DBT gene mutation.BMC pediatrics · 2019Article
- A Novel Whole Gene Deletion ofFrontiers in genetics · 2018Article
- Evaluation of neuroimaging findings in thalamic lesions: what can we think?Radiologia brasileiraArticle
- Biotin-Thiamine-Responsive Basal Ganglia Disease: A Case Report.Case reports in neurologyArticle
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7 authors.
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Abstract
purposeWe aimed to evaluate the magnetic resonance imaging (MRI) and clinical features of maple syrup urine disease (MSUD).
methodsThis retrospective study consisted of 10 MSUD patients confirmed by genetic testing. All patients underwent brain MRI. Phenotype, genotype, and areas of brain injury on MRI were retrospectively reviewed.
resultsSix patients (60%) had the classic form of MSUD with BCKDHB mutation, three patients (30%) had the intermittent form (two with BCKDHA mutations and one with DBT mutation), and one patient (10%) had the thiamine-responsive form with DBT mutation. On diffusion-weighted imaging, nine cases presented restricted diffusion in myelinated areas, and one intermittent case with DBT mutation was normal. The classic form of MSUD involved the basal ganglia in six cases; the cerebellum, mesencephalon, pons, and supratentorial area in five cases; and the thalamus in four cases, respectively. The intermittent form involved the cerebellum, pons, and supratentorial area in two cases. The thiamine-responsive form involved the basal ganglia and supratentorial area.
conclusionOur preliminary results indicate that patients with MSUD presented more commonly in classic form with BCKDHB mutation and displayed extensive brain injury on MRI.
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