TY  - GEN
AU  - Gibson,K M
AU  - Hoffmann,G
AU  - Nyhan,W L
AU  - Sweetman,L
AU  - Berger,R
AU  - le Coultre,R
AU  - Smit,G P
TI  - Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria
SN  - 0340-6199
PY  - 1989///0303
KW  - Carboxy-Lyases
KW  - metabolism
KW  - Cells, Cultured
KW  - Cerebellar Ataxia
KW  - complications
KW  - Child
KW  - Fibroblasts
KW  - enzymology
KW  - Humans
KW  - Male
KW  - Methylmalonyl-CoA Decarboxylase
KW  - Mevalonic Acid
KW  - urine
KW  - Muscle Hypotonia
KW  - Phosphotransferases
KW  - deficiency
KW  - Phosphotransferases (Alcohol Group Acceptor)
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1007/BF00441413
ER  -