| 000 | 01494 a2200457 4500 | ||
|---|---|---|---|
| 005 | 20250513033926.0 | ||
| 264 | 0 | _c19950817 | |
| 008 | 199508s 0 0 eng d | ||
| 022 | _a0141-8955 | ||
| 024 | 7 |
_a10.1007/BF00711675 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aRibes, A | |
| 245 | 0 | 0 |
_aPearson syndrome: altered tricarboxylic acid and urea-cycle metabolites, adrenal insufficiency and corneal opacities. _h[electronic resource] |
| 260 |
_bJournal of inherited metabolic disease _c1993 |
||
| 300 |
_a537-40 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aAcids _xblood |
| 650 | 0 | 4 |
_aAdrenal Insufficiency _xgenetics |
| 650 | 0 | 4 |
_aAmino Acids _xblood |
| 650 | 0 | 4 | _aBlotting, Southern |
| 650 | 0 | 4 |
_aCitric Acid Cycle _xphysiology |
| 650 | 0 | 4 |
_aCorneal Opacity _xgenetics |
| 650 | 0 | 4 |
_aDNA, Mitochondrial _xanalysis |
| 650 | 0 | 4 |
_aEnergy Metabolism _xphysiology |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMetabolism, Inborn Errors _xgenetics |
| 650 | 0 | 4 | _aSyndrome |
| 650 | 0 | 4 |
_aUrea _xmetabolism |
| 700 | 1 | _aRiudor, E | |
| 700 | 1 | _aValcárel, R | |
| 700 | 1 | _aSalvá, A | |
| 700 | 1 | _aCastelló, F | |
| 700 | 1 | _aMurillo, S | |
| 700 | 1 | _aDominguez, C | |
| 700 | 1 | _aRötig, A | |
| 700 | 1 | _aJakobs, C | |
| 773 | 0 |
_tJournal of inherited metabolic disease _gvol. 16 _gno. 3 _gp. 537-40 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/BF00711675 _zAvailable from publisher's website |
| 999 |
_c7608884 _d7608884 |
||