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Laboratory approach to hemolytic anemia
Hemolytic anemias are a group of disorders with varied clinical and molecular
heterogeneity. They are characterized by decreased levels of circulating erythrocytes in …
heterogeneity. They are characterized by decreased levels of circulating erythrocytes in …
[HTML][HTML] Diagnostic approaches for inherited hemolytic anemia in the genetic era
Y Kim, J Park, M Kim - Blood research, 2017 - synapse.koreamed.org
Inherited hemolytic anemias (IHAs) are genetic diseases that present with anemia due to the
increased destruction of circulating abnormal RBCs. The RBC abnormalities are classified …
increased destruction of circulating abnormal RBCs. The RBC abnormalities are classified …
Newborn screening of glucose-6-phosphate dehydrogenase deficiency in Guangxi, China: determination of optimal cutoff value to identify heterozygous female …
The aim of this study is to assess the disease incidence and mutation spectrum of glucose-6-
phosphate dehydrogenase (G6PD) deficiency in Guangxi, China, and to determine an …
phosphate dehydrogenase (G6PD) deficiency in Guangxi, China, and to determine an …
PYK-SubstitutionOME: an integrated database containing allosteric coupling, ligand affinity and mutational, structural, pathological, bioinformatic and computational …
Interpreting changes in patient genomes, understanding how viruses evolve and
engineering novel protein function all depend on accurately predicting the functional …
engineering novel protein function all depend on accurately predicting the functional …
Clinical and molecular spectrum of glucose-6-phosphate isomerase deficiency. Report of 12 new cases
E Fermo, C Vercellati, AP Marcello, A Zaninoni… - Frontiers in …, 2019 - frontiersin.org
Glucose-6-phosphate isomerase (GPI, EC 5.3. 1.9) is a dimeric enzyme that catalyzes the
reversible isomerization of glucose-6-phosphate to fructose-6-phosphate, the second …
reversible isomerization of glucose-6-phosphate to fructose-6-phosphate, the second …
[HTML][HTML] Next-generation sequencing–based diagnosis of unexplained inherited hemolytic anemias reveals wide genetic and phenotypic heterogeneity
Determination of the cause of inherited hemolysis is based on clinical and stepwise
conventional laboratory tests. Patients with obscure etiology require genetic diagnosis …
conventional laboratory tests. Patients with obscure etiology require genetic diagnosis …
Confounding factors in the diagnosis and clinical course of rare congenital hemolytic anemias
Congenital hemolytic anemias (CHAs) comprise defects of the erythrocyte membrane
proteins and of red blood cell enzymes metabolism, along with alterations of erythropoiesis …
proteins and of red blood cell enzymes metabolism, along with alterations of erythropoiesis …
Molecular diagnosis of unexplained haemolytic anaemia using targeted next-generation sequencing panel revealed (p. Ala337Thr) novel mutation in GPI gene in two …
Glucose-6-phosphate isomerase (GPI) deficiency is an autosomal recessive genetic
disorder causing congenital haemolytic anaemia (CHA). Diagnosis of GPI deficiency by the …
disorder causing congenital haemolytic anaemia (CHA). Diagnosis of GPI deficiency by the …
Glucose phosphate isomerase deficiency: high prevalence of p. Arg347His mutation in indian population associated with severe hereditary non-spherocytic hemolytic …
Abstract Objectives Glucose-6-phosphate isomerase (GPI) deficiency is an autosomal
recessive genetic disorder causing hereditary non-spherocytic hemolytic anemia (HNSHA) …
recessive genetic disorder causing hereditary non-spherocytic hemolytic anemia (HNSHA) …
Oxidation resistance 1 modulates glycolytic pathways in the cerebellum via an interaction with glucose-6-phosphate isomerase
Glucose metabolism is essential for the brain: it not only provides the required energy for
cellular function and communication but also participates in balancing the levels of oxidative …
cellular function and communication but also participates in balancing the levels of oxidative …