| 000 | 01415 a2200409 4500 | ||
|---|---|---|---|
| 005 | 20250512022509.0 | ||
| 264 | 0 | _c19890303 | |
| 008 | 198903s 0 0 eng d | ||
| 022 | _a0340-6199 | ||
| 024 | 7 |
_a10.1007/BF00441413 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aGibson, K M | |
| 245 | 0 | 0 |
_aMevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria. _h[electronic resource] |
| 260 |
_bEuropean journal of pediatrics _cDec 1988 |
||
| 300 |
_a250-2 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aCarboxy-Lyases _xmetabolism |
| 650 | 0 | 4 | _aCells, Cultured |
| 650 | 0 | 4 |
_aCerebellar Ataxia _xcomplications |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 |
_aFibroblasts _xenzymology |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMethylmalonyl-CoA Decarboxylase |
| 650 | 0 | 4 |
_aMevalonic Acid _xurine |
| 650 | 0 | 4 |
_aMuscle Hypotonia _xcomplications |
| 650 | 0 | 4 |
_aPhosphotransferases _xdeficiency |
| 650 | 0 | 4 | _aPhosphotransferases (Alcohol Group Acceptor) |
| 700 | 1 | _aHoffmann, G | |
| 700 | 1 | _aNyhan, W L | |
| 700 | 1 | _aSweetman, L | |
| 700 | 1 | _aBerger, R | |
| 700 | 1 | _ale Coultre, R | |
| 700 | 1 | _aSmit, G P | |
| 773 | 0 |
_tEuropean journal of pediatrics _gvol. 148 _gno. 3 _gp. 250-2 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/BF00441413 _zAvailable from publisher's website |
| 999 |
_c2856777 _d2856777 |
||