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Volumn 29, Issue 1, 2007, Pages 51-54
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D-bifunctional protein deficiency associated with drug resistant infantile spasms
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Author keywords
HSD17B4 gene; Infantile spasms; Peroxisomal D bifunctional protein
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Indexed keywords
CLOBAZAM;
DIAZEPAM DERIVATIVE;
LAMOTRIGINE;
PYRIDOXINE;
TRINUCLEOTIDE;
VALPROIC ACID;
VIGABATRIN;
ANAMNESIS;
APNEA;
ARTICLE;
CASE REPORT;
CLINICAL FEATURE;
CYANOSIS;
DRUG TOLERANCE;
ELECTROENCEPHALOGRAM;
GENE;
GENE DELETION;
HSD17B4 GENE;
HUMAN;
INFANT;
INFANTILE SPASM;
LABORATORY TEST;
MALE;
NUCLEAR MAGNETIC RESONANCE IMAGING;
PROTEIN DEFICIENCY;
RESPIRATORY TRACT DISEASE;
SEIZURE;
WEST SYNDROME;
17-HYDROXYSTEROID DEHYDROGENASES;
ANTICONVULSANTS;
DISEASE PROGRESSION;
DNA MUTATIONAL ANALYSIS;
DRUG RESISTANCE;
ELECTROENCEPHALOGRAPHY;
EPILEPSY;
FATAL OUTCOME;
GENE DELETION;
GENETIC MARKERS;
GENETIC PREDISPOSITION TO DISEASE;
HUMANS;
HYDRO-LYASES;
INFANT;
MALE;
MUTATION;
RESPIRATORY INSUFFICIENCY;
SPASMS, INFANTILE;
VIGABATRIN;
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EID: 33846109859
PISSN: 03877604
EISSN: None
Source Type: Journal
DOI: 10.1016/j.braindev.2006.06.004 Document Type: Article |
Times cited : (10)
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References (7)
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