000 | 01523 a2200397 4500 | ||
---|---|---|---|
005 | 20250517050943.0 | ||
264 | 0 | _c20160602 | |
008 | 201606s 0 0 eng d | ||
022 | _a1096-8652 | ||
024 | 7 |
_a10.1002/ajh.24178 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aMañú-Pereira, María Del Mar | |
245 | 0 | 0 |
_aPyruvate kinase deficiency and severe congenital hemolytic anemia in a double heterozygous patient with paternal transmission of an early germ-line de novo mutation. _h[electronic resource] |
260 |
_bAmerican journal of hematology _cDec 2015 |
||
300 |
_aE217-9 p. _bdigital |
||
500 | _aPublication Type: Letter; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 |
_aAnemia, Hemolytic, Congenital _xgenetics |
650 | 0 | 4 |
_aAnemia, Hemolytic, Congenital Nonspherocytic _xgenetics |
650 | 0 | 4 | _aGerm-Line Mutation |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aPaternal Exposure |
650 | 0 | 4 |
_aPyruvate Kinase _xdeficiency |
650 | 0 | 4 |
_aPyruvate Metabolism, Inborn Errors _xgenetics |
700 | 1 | _aGonzalez-Roca, Eva | |
700 | 1 | _avan Solinge, Wouter W | |
700 | 1 | _aLlaudet-Planas, Esther | |
700 | 1 | _aSevilla, Julián | |
700 | 1 | _aMontllor, Laura | |
700 | 1 | _aMensa-Vilaro, Anna | |
700 | 1 | _aPloos van Amstel, Hans Kristian | |
700 | 1 | _avan Wijk, Richard | |
700 | 1 | _aVives-Corrons, JoanLluis | |
773 | 0 |
_tAmerican journal of hematology _gvol. 90 _gno. 12 _gp. E217-9 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajh.24178 _zAvailable from publisher's website |
999 |
_c25209781 _d25209781 |