Pyruvate kinase deficiency and severe congenital hemolytic anemia in a double heterozygous patient with paternal transmission of an early germ-line de novo mutation

María Del Mar Mañú-Pereira; Eva Gonzalez-Roca; Wouter W van Solinge; Esther Llaudet-Planas; Julián Sevilla; Laura Montllor; Anna Mensa-Vilaro; Hans Kristian Ploos van Amstel; Richard van Wijk; JoanLluis Vives-Corrons

doi:10.1002/ajh.24178

Pyruvate kinase deficiency and severe congenital hemolytic anemia in a double heterozygous patient with paternal transmission of an early germ-line de novo mutation

María Del Mar Mañú-Pereira
, Eva Gonzalez-Roca
, Wouter W van Solinge
, Esther Llaudet-Planas
, Julián Sevilla
, Laura Montllor
, Anna Mensa-Vilaro
, Hans Kristian Ploos van Amstel
, Richard van Wijk
, JoanLluis Vives-Corrons

Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review

Original language	English
Pages (from-to)	E217-E219
Journal	American Journal of Hematology
Volume	90
Issue number	12
DOIs	https://doi.org/10.1002/ajh.24178
Publication status	Published - 28 Aug 2015

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10.1002/ajh.24178

Cite this

Del Mar Mañú-Pereira, M., Gonzalez-Roca, E., van Solinge, W. W., Llaudet-Planas, E., Sevilla, J., Montllor, L., Mensa-Vilaro, A., Ploos van Amstel, H. K., van Wijk, R., & Vives-Corrons, J. (2015). Pyruvate kinase deficiency and severe congenital hemolytic anemia in a double heterozygous patient with paternal transmission of an early germ-line de novo mutation. American Journal of Hematology, 90(12), E217-E219. https://doi.org/10.1002/ajh.24178

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title = "Pyruvate kinase deficiency and severe congenital hemolytic anemia in a double heterozygous patient with paternal transmission of an early germ-line de novo mutation",

author = "\{Del Mar Ma{\~n}{\'u}-Pereira\}, Mar{\'i}a and Eva Gonzalez-Roca and \{van Solinge\}, \{Wouter W\} and Esther Llaudet-Planas and Juli{\'a}n Sevilla and Laura Montllor and Anna Mensa-Vilaro and \{Ploos van Amstel\}, \{Hans Kristian\} and \{van Wijk\}, Richard and JoanLluis Vives-Corrons",

year = "2015",

month = aug,

day = "28",

doi = "10.1002/ajh.24178",

language = "English",

volume = "90",

pages = "E217--E219",

journal = "American Journal of Hematology",

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publisher = "John Wiley \& Sons Inc.",

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Del Mar Mañú-Pereira, M, Gonzalez-Roca, E, van Solinge, WW, Llaudet-Planas, E, Sevilla, J, Montllor, L, Mensa-Vilaro, A, Ploos van Amstel, HK , van Wijk, R & Vives-Corrons, J 2015, 'Pyruvate kinase deficiency and severe congenital hemolytic anemia in a double heterozygous patient with paternal transmission of an early germ-line de novo mutation', American Journal of Hematology, vol. 90, no. 12, pp. E217-E219. https://doi.org/10.1002/ajh.24178

Pyruvate kinase deficiency and severe congenital hemolytic anemia in a double heterozygous patient with paternal transmission of an early germ-line de novo mutation. / Del Mar Mañú-Pereira, María; Gonzalez-Roca, Eva; van Solinge, Wouter W et al.
In: American Journal of Hematology, Vol. 90, No. 12, 28.08.2015, p. E217-E219.

Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review

TY - JOUR

T1 - Pyruvate kinase deficiency and severe congenital hemolytic anemia in a double heterozygous patient with paternal transmission of an early germ-line de novo mutation

AU - Del Mar Mañú-Pereira, María

AU - Gonzalez-Roca, Eva

AU - van Solinge, Wouter W

AU - Llaudet-Planas, Esther

AU - Sevilla, Julián

AU - Montllor, Laura

AU - Mensa-Vilaro, Anna

AU - Ploos van Amstel, Hans Kristian

AU - van Wijk, Richard

AU - Vives-Corrons, JoanLluis

PY - 2015/8/28

Y1 - 2015/8/28

U2 - 10.1002/ajh.24178

DO - 10.1002/ajh.24178

M3 - Comment/Letter to the editor

C2 - 26315463

SN - 0361-8609

VL - 90

SP - E217-E219

JO - American Journal of Hematology

JF - American Journal of Hematology

IS - 12

ER -