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Blood
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May 9, 2014
Transcriptional and epigenetic basis for restoration of G6PD enzymatic activity in human G6PD-deficient cells
Kalliopi Makarona, Valentina S Caputo, Joana R Costa, et al.
Blood
|
January 19, 2019
A phase 1/2 ascending dose study and open-label extension study of voxelotor in patients with sickle cell disease
Jo Howard, Claire Jane Hemmaway, Paul Telfer, et al.
Haematologica
|
September 21, 2023
Bone mineral density in adult patients with pyruvate kinase deficiency on long-term mitapivat treatment
Hanny Al-Samkari, Rachael F Grace, Andreas Glenthøj, et al.
Nature Medicine
|
June 13, 2006
Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency
Antonio M Almeida, Yoshiko Murakami, D Mark Layton, et al.
Blood Advances
|
March 22, 2022
Whole genome sequences discriminate hereditary hemorrhagic telangiectasia phenotypes by non-HHT deleterious DNA variation
Katie E Joyce, Ebun Onabanjo, Sheila Brownlow, et al.
British Journal of Haematology
|
April 25, 2020
Protecting vulnerable patients with inherited anaemias from unnecessary death during the COVID-19 pandemic
Noémi B A Roy, Paul Telfer, Perla Eleftheriou, et al.
Nature Genetics
|
October 18, 2005
Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1
Lesley J Bruce, Hannah C Robinson, Hélène Guizouarn, et al.
BMJ Open
|
March 23, 2023
The Pyruvate Kinase Deficiency Global Longitudinal (Peak) Registry: rationale and study design
Rachael F Grace, Eduard J van Beers, Joan-Lluis Vives Corrons, et al.
American Journal of Hematology
|
January 3, 2023
Early-onset reduced bone mineral density in patients with pyruvate kinase deficiency
Hanny Al-Samkari, Rachael F Grace, Andreas Glenthøj, et al.
The New England Journal of Medicine
|
April 13, 2022
Mitapivat versus Placebo for Pyruvate Kinase Deficiency
Hanny Al-Samkari, Frédéric Galactéros, Andreas Glenthøj, et al.
Page
of 4
Search research articles
Search
Showing results (21-30 of 33) with videos related to
Sort By:
Page
of 4
Blood
|
May 9, 2014
Transcriptional and epigenetic basis for restoration of G6PD enzymatic activity in human G6PD-deficient cells
Kalliopi Makarona, Valentina S Caputo, Joana R Costa, et al.
Blood
|
January 19, 2019
A phase 1/2 ascending dose study and open-label extension study of voxelotor in patients with sickle cell disease
Jo Howard, Claire Jane Hemmaway, Paul Telfer, et al.
Haematologica
|
September 21, 2023
Bone mineral density in adult patients with pyruvate kinase deficiency on long-term mitapivat treatment
Hanny Al-Samkari, Rachael F Grace, Andreas Glenthøj, et al.
Nature Medicine
|
June 13, 2006
Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency
Antonio M Almeida, Yoshiko Murakami, D Mark Layton, et al.
Blood Advances
|
March 22, 2022
Whole genome sequences discriminate hereditary hemorrhagic telangiectasia phenotypes by non-HHT deleterious DNA variation
Katie E Joyce, Ebun Onabanjo, Sheila Brownlow, et al.
British Journal of Haematology
|
April 25, 2020
Protecting vulnerable patients with inherited anaemias from unnecessary death during the COVID-19 pandemic
Noémi B A Roy, Paul Telfer, Perla Eleftheriou, et al.
Nature Genetics
|
October 18, 2005
Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1
Lesley J Bruce, Hannah C Robinson, Hélène Guizouarn, et al.
BMJ Open
|
March 23, 2023
The Pyruvate Kinase Deficiency Global Longitudinal (Peak) Registry: rationale and study design
Rachael F Grace, Eduard J van Beers, Joan-Lluis Vives Corrons, et al.
American Journal of Hematology
|
January 3, 2023
Early-onset reduced bone mineral density in patients with pyruvate kinase deficiency
Hanny Al-Samkari, Rachael F Grace, Andreas Glenthøj, et al.
The New England Journal of Medicine
|
April 13, 2022
Mitapivat versus Placebo for Pyruvate Kinase Deficiency
Hanny Al-Samkari, Frédéric Galactéros, Andreas Glenthøj, et al.
Page
of 4