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Disease Enzyme Defect and Genetics Onset Early Manifestations Vision and Hearing Motor System Seizures Laboratory and Tissue Studies Course Adrenoleukodystrophy and variants (peroxisomal disease) X-linked Xq28 Neonatal form: AR Acyl-CoA synthetase 5–10 y May also present as newborn, adolescent, or adult Impaired intellect ...
 
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Disease Enzyme Defect and Genetics Onset Early Manifestations Vision and Hearing Somatic Findings Motor Findings Seizures Labs Clinical Course White matter Globoid (Krabbe) leukodystrophy Recessive galactocerebroside β-galactosidase deficiency. Chromosome 14q21–14q31 Infantile form first 6 mo. Late-onset form 2–6 y. Adolescent and adult forms are rare Feeding difficulties Shrill cry ...
 
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  Adverse Drug Reaction Acute Side Effects   Drug Concentration Dependent Idiosyncratic Chronic Side Effects Carbamazepine Diplopia Dizziness Drowsiness Nausea Unsteadiness Lethargy Blood dyscrasias Rash (HLA antigen testing may be relevant to avoid Stevens–Johnson or toxic epidermal necrolysis) ...
 
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AED Dosing and Target Serum Concentrations
 
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Benign (no-familial) neonatal seizures versus Benign familial neonatal seizures
 
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References Drug Study Design Evidence level Dose Age(years) Number of patients Responders (%) Active drug Responders (%) Placebo p value ...
 
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AED Reference Ranges
 
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AED Drug choice
12 results - showing 1 - 10  
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