Partial effectiveness of acetazolamide in a mild form of GLUT1 deficiency: A pediatric observation

Movement Disorders

Volumn 28, Issue 12, 2013, Pages 1749-1751

  Chambon, Renaud ^a   Vuillaumier Barrot, Sandrine ^b   Seta, Nathalie ^b   Wagner, Sabrina ^c   Sarret, Catherine ^a,d  

^a UNIVERSITY HOSPITAL OF CLERMONT FERRAND   (France)

^b BICHAT HOSPITAL   (France)

^c HOSPICES CIVILS DE LYON   (France)

^d Image Guided Clinical Neuroscience and Connections Unit   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ACETAZOLAMIDE; ARGININE; CYSTINE; CYTIDINE; THYMIDINE; VALPROIC ACID;

APRAXIA; ASTHENIA; CASE REPORT; CHILD; CHOREOATHETOSIS; CODON; DIURESIS; GENE; GENETIC ANALYSIS; GLUCOSE TRANSPORTER 1 DEFICIENCY; HUMAN; LETTER; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN DEFICIENCY; SCHOOL CHILD; SIDE EFFECT; TONIC CLONIC SEIZURE; WALKING DIFFICULTY;

ACETAZOLAMIDE; CARBOHYDRATE METABOLISM, INBORN ERRORS; CHILD; HUMANS; MALE; MONOSACCHARIDE TRANSPORT PROTEINS; TREATMENT OUTCOME;

EID: 84886423151     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.25484     Document Type: Letter

References (9)

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