Diagnostics and therapeutic insights in a severe case of mevalonate kinase deficiency

Pediatrics

Volumn 119, Issue 2, 2007, Pages

  Nevyjel, Marco ^a   Pontillo, Alessandra ^a,b   Calligaris, Lorenzo ^b   Tommasini, Alberto ^a,b   D'Osualdo, Andrea ^c   Waterham, Hans R ^d   Granzotto, Marilena ^a   Crovella, Sergio ^a,b   Barbi, Egidio ^a   Ventura, Alessandro ^a,b  

^a INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

^b UNIVERSITY OF TRIESTE   (Italy)

^c G GASLINI INSTITUTE   (Italy)

^d ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

Anakinra; Mevalonic aciduria; MVK; Nephritis

Indexed keywords

C REACTIVE PROTEIN; ENALAPRIL; IMMUNOGLOBULIN D; MEVALONATE KINASE; PREDNISONE; RECOMBINANT INTERLEUKIN 1 RECEPTOR BLOCKING AGENT;

ANAMNESIS; ARTICLE; AUTOINFLAMMATORY DISEASE; CASE REPORT; CLINICAL FEATURE; DISEASE ASSOCIATION; ENZYME DEFICIENCY; ERYTHROCYTE SEDIMENTATION RATE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MALE; MEVALONATE KINASE DEFICIENCY; NEPHRITIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; RARE DISEASE; STEROL SYNTHESIS;

HUMANS; INFANT; INTERLEUKIN 1 RECEPTOR ANTAGONIST PROTEIN; LIPID METABOLISM, INBORN ERRORS; MALE; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); SEVERITY OF ILLNESS INDEX;

EID: 33947112776     PISSN: 00314005     EISSN: 02105721     Source Type: Journal    
DOI: 10.1542/peds.2006-2015     Document Type: Article

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