Results 31 to 40 of about 638 (159)
Molecular heterogeneity of pyruvate kinase deficiency [PDF]
, 2020 Red cell pyruvate kinase (PK) deficiency is the most common glycolytic defect associated with congenital non-spherocytic hemolytic anemia. The disease, transmitted as an autosomal recessive trait, is caused by mutations in the PKLR gene and is ...
Elisa Fermo, Paola Bianchi
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Pharmacogenomics of “Core” Essential Medicines [PDF]
, 2021 Pharmacogenomics uses information about a person’s genetic makeup to choose the drugs dosage regimens that are likely to work best for that particular person.
Sello, Molungoa
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Whole-exome sequencing revealed HKDC1 as a candidate gene associated with autosomal-recessive retinitis pigmentosa. [PDF]
, 2018 Retinitis pigmentosa (RP) is an inheritable retina degenerative disease leading to blindness. Despite the identification of 70 genes associated with RP, the genetic cause of ∼40% of RP patients remains to be elucidated. Whole-exome sequencing was applied
Chen, Rui +18 more
core +1 more source
Comorbidities and complications in adults with pyruvate kinase deficiency [PDF]
, 2021 OBJECTIVES: Pyruvate kinase (PK) deficiency is caused by PKLR gene mutations, leading to defective red blood cell glycolysis and hemolytic anemia. Rates of comorbidities and complications by transfusion history and relative to the general population ...
Al-Samkari, Hanny +16 more
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Neonatology. Introduction [PDF]
, 2017 Навчальний посібник містить інформацію про основні принципи догляду за новонародженими дітьми, перехідні умови та годування немовлят, основні принципи реанімації новонароджених.
Petrashenko, Viktoriia Oleksandrivna +11 more
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Development of the Pyruvate Kinase Deficiency Diary (PKDD) and Pyruvate Kinase Deficiency Impact Assessment (PKDIA): Disease-Specific Assessments [PDF]
, 2019 © 2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. This article has been accepted for publication and undergone full peer review but has not been through the copyediting, typesetting, pagination and proofreading process, which may lead to ...
Salek, Sam
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Rare red blood cell abnormalities [PDF]
, 2015 The aim of this thesis is to give insight in the process of diagnosing rare red blood cell defects, to clarify the relation of a defect with cell function and to extend, in this respect, our knowledge about normal red cell function and biochemistry.
van Zwieten, R.
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Molecular mechanisms of disease in hereditary red blood cell enzymopathies [PDF]
, 2004 Metabolically defective red blood cells are old before their time, and suffer from metabolic progeria. The focus of this thesis was to identify the molecular mechanisms by which inherited enzymopathies of the red blood cell lead to impaired enzyme ...
Wijk, Henricus Anthonius van
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Worldwide study of hematopoietic allogeneic stem cell transplantation in pyruvate kinase deficiency [PDF]
, 2018 Transplantation and ...
Akiyoshi, K. +18 more
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