| 000 | 01715 a2200505 4500 | ||
|---|---|---|---|
| 005 | 20250512102756.0 | ||
| 264 | 0 | _c19730926 | |
| 008 | 197309s 0 0 eng d | ||
| 022 | _a0021-9738 | ||
| 024 | 7 |
_a10.1172/JCI107391 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aDancis, J | |
| 245 | 0 | 0 |
_aDisparate enzyme activity in erythocytes and leukocytes. A variant of hypoxanthine phosphoribosyl-transferase deficiency with an unstable enzyme. _h[electronic resource] |
| 260 |
_bThe Journal of clinical investigation _cAug 1973 |
||
| 300 |
_a2068-74 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aCarbon Isotopes |
| 650 | 0 | 4 | _aDiphosphates |
| 650 | 0 | 4 |
_aEpilepsy, Tonic-Clonic _xetiology |
| 650 | 0 | 4 |
_aErythrocytes _xenzymology |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 |
_aGlucosephosphate Dehydrogenase Deficiency _xcomplications |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aHypoxanthines _xmetabolism |
| 650 | 0 | 4 |
_aInosine Nucleotides _xmetabolism |
| 650 | 0 | 4 |
_aIntellectual Disability _xetiology |
| 650 | 0 | 4 |
_aLesch-Nyhan Syndrome _xmetabolism |
| 650 | 0 | 4 |
_aLeukocytes _xenzymology |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMetabolism, Inborn Errors _xblood |
| 650 | 0 | 4 | _aMosaicism |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aPentosyltransferases _xmetabolism |
| 650 | 0 | 4 | _aTemperature |
| 650 | 0 | 4 |
_aUric Acid _xurine |
| 650 | 0 | 4 |
_aXanthines _xurine |
| 700 | 1 | _aYip, L C | |
| 700 | 1 | _aCox, R P | |
| 700 | 1 | _aPiomelli, S | |
| 700 | 1 | _aBalis, M E | |
| 773 | 0 |
_tThe Journal of clinical investigation _gvol. 52 _gno. 8 _gp. 2068-74 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1172/JCI107391 _zAvailable from publisher's website |
| 999 |
_c4357394 _d4357394 |
||