Hyperpyrexia resulting in encephalopathy in a 14-month-old patient with cblC disease

Brain and Development

Volumn 33, Issue 5, 2011, Pages 432-436

  Grünert, Sarah Catharina ^a   Fowler, Brian ^b   Superti Furga, Andrea ^a   Sass, Jörn Oliver ^a   Schwab, Karl Otfried ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

CblC; Cobalamin C defect; Encephalopathy; Hyperpyrexia

Indexed keywords

ANTICONVULSIVE AGENT; BETAINE; CYANOCOBALAMIN; FOLIC ACID; HOMOCYSTEINE; METHIONINE; SERINE;

ARTICLE; BRAIN ATROPHY; CASE REPORT; CHILD; COBALAMIN C DEFECT; CYANOSIS; DISABILITY; GENE MUTATION; HUMAN; HYPERPYREXIA; HYPOACUSIS; INBORN ERROR OF METABOLISM; MALE; MENTAL DEFICIENCY; METHYLMALONIC ACIDURIA; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; SCHOOL CHILD; SEIZURE; SOMNOLENCE; STOMACH TUBE; TACHYCARDIA; TONIC CLONIC SEIZURE; UPPER RESPIRATORY TRACT INFECTION; URINE LEVEL; VISUAL IMPAIRMENT;

AMINO ACID METABOLISM, INBORN ERRORS; CARRIER PROTEINS; FEVER; HOMOCYSTINURIA; HUMANS; INFANT; INFANT, NEWBORN; MALE; MENTAL RETARDATION; NEURODEGENERATIVE DISEASES; VITAMIN B 12;

EID: 79954594075     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.braindev.2010.07.012     Document Type: Article

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