Literature DB >> 11768588

Thiamin-responsive maple syrup urine disease: seizures after 7 years of satisfactory metabolic control.

D Delis1, H Michelakakis, E Katsarou, C S Bartsocas.   

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Year:  2001        PMID： 11768588     DOI： 10.1023/a:1012767127434

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  1 in total

1.  Maple syrup urine disease: clinical, EEG, and plasma amino acid correlations with a theoretical mechanism of acute neurotoxicity.

Authors:  J Korein; C Sansaricq; M Kalmijn; J Honig; B Lange
Journal:  Int J Neurosci       Date:  1994-11       Impact factor: 2.292
  1 in total
  1 in total

1.  Case report: maple syrup urine disease with a novel DBT gene mutation.

Authors:  Wei Feng; Jinfu Jia; Heyang Guan; Qing Tian
Journal:  BMC Pediatr       Date:  2019-12-13       Impact factor: 2.125
  1 in total

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