Neurophysiological findings in a case of carbohydrate-deficient glycoprotein (CDG) syndrome type I with phosphomannomutase deficiency

European Journal of Paediatric Neurology

Volumn 2, Issue 5, 1998, Pages 239-244

  Veneselli, Edvige ^a,b   Biancheri, Roberta ^a   Di Rocco, Maja ^b   Tortorelli, Silvia ^a  

^a UNIVERSITY OF GENOA   (Italy)

^b G GASLINI INSTITUTE   (Italy)

Author keywords

Carbohydrate deficient glycoprotein syndrome; Electroencephalogram; Electroretinogram; Evoked potentials; Nervous conduction velocity; Phosphomannomutase deficiency

Indexed keywords

PHOSPHOMANNOMUTASE;

ARTICLE; CASE REPORT; CHILD; CONGENITAL DISORDER OF GLYCOSYLATION; ELECTROENCEPHALOGRAM; ELECTRORETINOGRAM; ENZYME DEFICIENCY; EVOKED AUDITORY RESPONSE; EVOKED SOMATOSENSORY RESPONSE; EVOKED VISUAL RESPONSE; HUMAN; MALE; MOTOR NERVE CONDUCTION; NEUROPHYSIOLOGY; PATHOPHYSIOLOGY; PRIORITY JOURNAL; SENSORY NERVE CONDUCTION;

EID: 0031771877     PISSN: 10903798     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1090-3798(98)80037-8     Document Type: Article

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