Maple syrup urine disease caused by a partial deletion in the inner E2 core domain of the branched chain alpha-keto acid dehydrogenase complex due to aberrant splicing. A single base deletion at a 5'-splice donor site of an intron of the E2 gene disrupts the consensus sequence in this region. [PDF]
, 1991 Hiroshi Mitsubuchi +5 more
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Neonatal maple syrup urine disease case report and literature review. [PDF]
Medicine (Baltimore), 2022 Liu Q +5 more
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Cerebral edema in maple syrup urine disease: spectrum of clinical presentation and treatment outcomes. [PDF]
Orphanet J Rare DisSulaiman RA +7 more
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Fasting and non-fasting plasma levels of monomethyl branched chain fatty acids: Implications for maple syrup urine disease. [PDF]
JIMD Rep, 2023 Tangeraas T +5 more
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Branched-Chain Amino Acid Assembly into Amyloid-like Fibrils Provides a New Paradigm for Maple Syrup Urine Disease Pathology. [PDF]
Int J Mol Sci, 2023 Kreiser T +5 more
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Maple Syrup Urine Disease Induced Grand Mal Seizures: A Case Report
, 2018 Gautam Satheesh +3 more
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Retinopathy associated with pancreatitis in a child with maple syrup urine disease [PDF]
, 1998 John Danias +2 more
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Nodular Regenerative Hyperplasia Is a Frequent Finding in Explanted Livers of Patients With Maple Syrup Urine Disease. [PDF]
Pediatr Dev PatholShui Y, Geng Y, Naini BV, Wang HL.
europepmc +1 more source