Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome.
Poll-The
B T
BT
Department of Metabolic Disorders, University Medical Center Utrecht Het Wilhelmina Kinderziekenhuis, The Netherlands. b.pollthe@wkz.azu.nl
Frenkel
J
J
Houten
S M
SM
Kuis
W
W
Duran
M
M
de Koning
T J
TJ
Dorland
L
L
de Barse
M M
MM
Romeijn
G J
GJ
Wanders
R J
RJ
Waterham
H R
HR
D000138:Acidosis / Q000150:complications; D010505:Familial Mediterranean Fever / Q000150:complications* / Q000503:physiopathology; D006801:Humans; D006942:Hypergammaglobulinemia / Q000150:complications* / Q000503:physiopathology; D007072:Immunoglobulin D / Q000097:blood*; D008798:Mevalonic Acid / Q000652:urine*; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000172:deficiency*
D007072:Immunoglobulin D; D017853:Phosphotransferases (Alcohol Group Acceptor); C021796:mevalonate kinase; D008798:Mevalonic Acid