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