Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria. [electronic resource]
- European journal of pediatrics Dec 1988
- 250-2 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
0340-6199
10.1007/BF00441413 doi
Carboxy-Lyases--metabolism Cells, Cultured Cerebellar Ataxia--complications Child Fibroblasts--enzymology Humans Male Methylmalonyl-CoA Decarboxylase Mevalonic Acid--urine Muscle Hypotonia--complications Phosphotransferases--deficiency Phosphotransferases (Alcohol Group Acceptor)