Mevalonate kinase deficiency in a child with periodic fever and without hyperimmunoglobulinaemia D.
Di Rocco
M
M
II Pediatric Unit Gaslini Institute Genoa, Italy. majadirocco@ospedale-gaslini.ge.it
Caruso
U
U
Waterham
H R
HR
Picco
P
P
Loy
A
A
Wanders
R J
RJ
D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005334:Fever; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007070:Immunoglobulin A / Q000097:blood; D007072:Immunoglobulin D / Q000097:blood*; D008297:Male; D008798:Mevalonic Acid / Q000652:urine; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000172:deficiency* / Q000235:genetics
D007070:Immunoglobulin A; D007072:Immunoglobulin D; D017853:Phosphotransferases (Alcohol Group Acceptor); C021796:mevalonate kinase; D008798:Mevalonic Acid