Biotin-responsive basal ganglia disease revisited: Clinical, radiologic, and genetic findings

Neurology

Volumn 80, Issue 3, 2013, Pages 261-267

  Tabarki, Brahim ^a   Al Shafi, Shatha ^a   Al Shahwan, Saad ^a   Azmat, Zeeshan ^a   Al Hashem, Amel ^a   Al Adwani, Nawal ^a   Biary, Nabil ^a   Al Zawahmah, Mohamed ^a   Khan, Sonia ^a   Zuccoli, Giulio ^b  

^a The General Directorate of Armed Forces Health Services   (Saudi Arabia)

^b CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BIOTIN; THIAMINE;

BASAL GANGLION; BIOTIN RESPONSIVE BASAL GANGLIA DISEASE; BRAIN ATROPHY; BRAIN CORTEX; BRAIN DISEASE; BRAIN STEM; CAUDATE NUCLEUS; CHILD; CHRONIC DISEASE; CLINICAL ARTICLE; CLINICAL EXAMINATION; CLINICAL FEATURE; COMA; DIFFUSION COEFFICIENT; DIFFUSION WEIGHTED IMAGING; DYSTONIA; EPILEPSY; ETHNIC GROUP; EXTRAPYRAMIDAL SYMPTOM; EXTRAPYRAMIDAL SYNDROME; FEMALE; GENETIC ANALYSIS; GENETIC SCREENING; GLIOSIS; HUMAN; LABORATORY TEST; MALE; MEDICAL HISTORY; MENTAL DEFICIENCY; NEURORADIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; PUTAMEN; RECURRENT DISEASE; REVIEW; SCHOOL CHILD; SEIZURE;

ATROPHY; BASAL GANGLIA; BASAL GANGLIA DISEASES; CHILD; CHILD, PRESCHOOL; CHROMOSOME MAPPING; DIFFUSION MAGNETIC RESONANCE IMAGING; FEMALE; GLIOSIS; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE TRANSPORT PROTEINS; RETROSPECTIVE STUDIES; SEIZURES; THIAMINE; VITAMINS;

EID: 84873679672     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e31827deb4c     Document Type: Review

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