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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
Mount Sinai Academy of Physician-Scientists
Nash Family Center for Advanced Circuit Therapeutics
Neurology
Research output
:
Contribution to journal
›
Article
›
peer-review
16
Scopus citations
Overview
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Keyphrases
Seizure
100%
Encephalopathy
100%
Biotin
100%
Myoclonus-dystonia
100%
Biotin-responsive
100%
Myoclonus
66%
Hearing Impairment
66%
Juvenile-onset
66%
Biochemical Characteristics
33%
Pharmacologic
33%
Ataxia
33%
Therapeutic Trial
33%
Neurological Abnormalities
33%
Clinical Features
33%
Young Women
33%
Hemiparesis
33%
First Year of Life
33%
Adult-onset
33%
Hemianopia
33%
Carboxylase Deficiency
33%
Biotinidase Deficiency
33%
Biotin Carboxylase
33%
Biotinidase
33%
Medicine and Dentistry
Ataxia
100%
Epileptic Seizure
100%
Brain Disease
100%
Myoclonus
100%
Biotin
100%
Hearing Impairment
33%
Hemiparesis
16%
Carboxylase
16%
Hemianopia
16%
Myoclonus Seizure
16%
Biotinidase Deficiency
16%
Biotinidase
16%
Pharmacology, Toxicology and Pharmaceutical Science
Ataxia
100%
Brain Disease
100%
Biotin
100%
Myoclonus
100%
Hearing Impairment
33%
Syndrome
16%
Hemiparesis
16%
Carboxylase
16%
Myoclonus Seizure
16%
Biotinidase Deficiency
16%
Biotinidase
16%
Hemianopia
16%