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Your search keyword '"Esther Llaudet-Planas"' showing total 2 results
Start Over Author "Esther Llaudet-Planas" Journal american journal of hematology
2 results on '"Esther Llaudet-Planas"'

1. Pyruvate kinase deficiency and severe congenital hemolytic anemia in a double heterozygous patient with paternal transmission of an early germ-linede novomutation

Author

Esther Llaudet-Planas, Anna Mensa-Vilaro, Laura Montllor, Richard van Wijk, Hans Kristian Ploos van Amstel, Wouter W. van Solinge, Julián Sevilla, Maria del Mar Mañú-Pereira, Vives-Corrons Jl, and Eva González-Roca

Subjects
medicine.medical_specialty, De novo mutation, Hematology, Biology, medicine.disease, Germline, Paternal transmission, Paternal Exposure, Germline mutation, Endocrinology, Internal medicine, medicine, Congenital hemolytic anemia, Pyruvate kinase, Pyruvate kinase deficiency
Published
2015

2. 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

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, and JoanLluis, Vives-Corrons

Subjects
Male, Paternal Exposure, Pyruvate Kinase, Humans, Anemia, Hemolytic, Congenital Nonspherocytic, Pyruvate Metabolism, Inborn Errors, Anemia, Hemolytic, Congenital, Germ-Line Mutation
Published
2015

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