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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 …
Inherited macrothrombocytopenia: correlating morphology, epidemiology, molecular pathology and clinical features
Inherited macrothrombocytopenia is increasingly being recognized as a relatively common
condition. This descriptive review aims at focusing on the different areas of advancement …
condition. This descriptive review aims at focusing on the different areas of advancement …
[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 …
Two Cases of Sitosterolemia Falsely Diagnosed as Familial Hypercholesterolemia: Could Digging Deeper Have Avoided Harm?
Sitosterolemia is a rare monogenic lipid disease characterized by the excessive uptake of
phytosterols and their accumulation in blood and tissues. Clinically, it can present with …
phytosterols and their accumulation in blood and tissues. Clinically, it can present with …
Pediatric patients with familially inherited sitosterolemia: Two case reports
SQ Su, DS **ong, XM Ding, JA Kuang… - Frontiers in …, 2022 - frontiersin.org
Background Sitosterolemia is a rare recessive genetic abnormality of hyperlipidemia; it is
characterized by increased levels and accumulation of sitosterol in the plasma and local …
characterized by increased levels and accumulation of sitosterol in the plasma and local …
Macrothrombocytopenia: role of automated platelet data in diagnosis
Purpose Inherited macrothrombocytopenia is an underdiagnosed condition and may result
in misdiagnosis and inappropriate management. This research was done to study this …
in misdiagnosis and inappropriate management. This research was done to study this …
[HTML][HTML] Sitosterolemia
SB Myrie, RD Steiner, D Mymin - 2020 - europepmc.org
Sitosterolemia is characterized by: Hypercholesterolemia (especially in children) which (1)
shows an unexpected significant lowering of plasma cholesterol level in response to low-fat …
shows an unexpected significant lowering of plasma cholesterol level in response to low-fat …
Sitosterolemia: four cases of an uncommon cause of hemolytic anemia (Mediterranean stomatocytosis with macrothrombocytopenia)
Sitosterolemia is a rare autosomal recessively inherited lipid metabolic disorder that is
characterized by hyper absorption of plant sterols from the intestinal mucosa leading to toxic …
characterized by hyper absorption of plant sterols from the intestinal mucosa leading to toxic …
Prevalence of macrothrombocytopenia in healthy college students in western India
Macrothrombocytopenia is being increasingly described across the globe. There is paucity
of data on the prevalence of this condition from different parts of India. 10,047 healthy …
of data on the prevalence of this condition from different parts of India. 10,047 healthy …
Molecular genetics of inherited red cell membrane disorders
Inherited red cell membrane disorders constitute a diverse group of disorders which are
characterized by wide clinical and molecular heterogeneity. They are nonimmune hereditary …
characterized by wide clinical and molecular heterogeneity. They are nonimmune hereditary …