000 | 01616 a2200469 4500 | ||
---|---|---|---|
005 | 20250512023029.0 | ||
264 | 0 | _c19860416 | |
008 | 198604s 0 0 eng d | ||
022 | _a0140-6736 | ||
024 | 7 |
_a10.1016/s0140-6736(86)92811-4 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aDunger, D B | |
245 | 0 | 0 |
_aDeletion on the X chromosome detected by direct DNA analysis in one of two unrelated boys with glycerol kinase deficiency, adrenal hypoplasia, and Duchenne muscular dystrophy. _h[electronic resource] |
260 |
_bLancet (London, England) _cMar 1986 |
||
300 |
_a585-7 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article | ||
650 | 0 | 4 |
_aAdrenal Insufficiency _xgenetics |
650 | 0 | 4 | _aChild |
650 | 0 | 4 | _aChild, Preschool |
650 | 0 | 4 | _aChromosome Banding |
650 | 0 | 4 | _aChromosome Deletion |
650 | 0 | 4 |
_aDNA _xanalysis |
650 | 0 | 4 |
_aGlycerol _xblood |
650 | 0 | 4 |
_aGlycerol Kinase _xdeficiency |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 |
_aIntellectual Disability _xcomplications |
650 | 0 | 4 | _aMale |
650 | 0 | 4 |
_aMuscular Dystrophies _xgenetics |
650 | 0 | 4 |
_aPhosphotransferases _xdeficiency |
650 | 0 | 4 |
_aSex Chromosome Aberrations _xgenetics |
650 | 0 | 4 |
_aTriglycerides _xblood |
650 | 0 | 4 | _aX Chromosome |
700 | 1 | _aDavies, K E | |
700 | 1 | _aPembrey, M | |
700 | 1 | _aLake, B | |
700 | 1 | _aPearson, P | |
700 | 1 | _aWilliams, D | |
700 | 1 | _aWhitfield, A | |
700 | 1 | _aDillon, M J | |
773 | 0 |
_tLancet (London, England) _gvol. 1 _gno. 8481 _gp. 585-7 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1016/s0140-6736(86)92811-4 _zAvailable from publisher's website |
999 |
_c2875151 _d2875151 |