| 000 | 01553 a2200445 4500 | ||
|---|---|---|---|
| 005 | 20250513094402.0 | ||
| 264 | 0 | _c19961004 | |
| 008 | 199610s 0 0 eng d | ||
| 022 | _a0141-8955 | ||
| 024 | 7 |
_a10.1007/BF01799424 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBrivet, M | |
| 245 | 0 | 0 |
_aRetrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents. _h[electronic resource] |
| 260 |
_bJournal of inherited metabolic disease _c1996 |
||
| 300 |
_a181-4 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAcylation |
| 650 | 0 | 4 |
_aCarnitine _xanalysis |
| 650 | 0 | 4 |
_aCarnitine Acyltransferases _xdeficiency |
| 650 | 0 | 4 |
_aCarnitine O-Palmitoyltransferase _xmetabolism |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aFibroblasts _xenzymology |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aIntracellular Membranes _xmetabolism |
| 650 | 0 | 4 |
_aLymphocytes _xenzymology |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMitochondria _xmetabolism |
| 650 | 0 | 4 | _aRetrospective Studies |
| 700 | 1 | _aSlama, A | |
| 700 | 1 | _aMillington, D S | |
| 700 | 1 | _aRoe, C R | |
| 700 | 1 | _aDemaugre, F | |
| 700 | 1 | _aLegrand, A | |
| 700 | 1 | _aBoutron, A | |
| 700 | 1 | _aPoggi, F | |
| 700 | 1 | _aSaudubray, J M | |
| 773 | 0 |
_tJournal of inherited metabolic disease _gvol. 19 _gno. 2 _gp. 181-4 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/BF01799424 _zAvailable from publisher's website |
| 999 |
_c8737015 _d8737015 |
||