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Biotin-responsive encephalopathy with myoclonus, ataxia, and seizures.
S. Bressman
, S. Fahn
, M. Eisenberg
, M. Brin
, W. Maltese
Friedman Brain Institute
Icahn School of Medicine at Mount Sinai
Nash Family Center for Advanced Circuit Therapeutics
Neurology
Research output
:
Contribution to journal
›
Article
›
peer-review
15
Scopus citations
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Keyphrases
Ataxia
100%
Seizure
100%
Encephalopathy
100%
Myoclonus
100%
Biotin-responsive
100%
Biotin
75%
Hearing Impairment
50%
Juvenile-onset
50%
Pharmacologic
25%
Therapeutic Trial
25%
Neurological Abnormalities
25%
Clinical Features
25%
Young Women
25%
Hemiparesis
25%
First Year of Life
25%
Adult-onset
25%
Biochemical Features
25%
Hemianopia
25%
Carboxylase Deficiency
25%
Biotinidase Deficiency
25%
Biotin Carboxylase
25%
Biotinidase
25%
Pharmacology, Toxicology and Pharmaceutical Science
Ataxia
100%
Brain Disease
100%
Biotin
100%
Myoclonus
100%
Hearing Impairment
33%
Combination Therapy
16%
Syndrome
16%
Hemiparesis
16%
Carboxylase
16%
Myoclonus Seizure
16%
Biotinidase Deficiency
16%
Biotinidase
16%
Hemianopia
16%