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New insights on hereditary erythrocyte membrane defects
After the first proposed model of the red blood cell membrane skeleton 36 years ago, several
additional proteins have been discovered during the intervening years, and their …
additional proteins have been discovered during the intervening years, and their …
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 …
Molecular diagnostic update in hereditary hemolytic anemia and neonatal hyperbilirubinemia
Hereditary hemolytic anemia (HHA) is a group of genetically and phenotypically
heterogeneous disorders characterized by premature destruction of red blood cells (RBC s) …
heterogeneous disorders characterized by premature destruction of red blood cells (RBC s) …
Overview of Gilbert's syndrome
Gilbert's syndrome (GS) is a benign hereditary disorder of bilirubin conjugation resulting in
an isolated, elevated blood level of unconjugated bilirubin. 1 GS affects 2%–10% of the …
an isolated, elevated blood level of unconjugated bilirubin. 1 GS affects 2%–10% of the …
Deciphering molecular heterogeneity of Indian families with hereditary spherocytosis using targeted next‐generation sequencing: first South Asian study
Defects in various erythrocyte membrane proteins genes (ankyrin, band‐3, β‐and α‐spectrin
and protein 4· 2) can cause hereditary spherocytosis (HS). This molecular heterogeneity of …
and protein 4· 2) can cause hereditary spherocytosis (HS). This molecular heterogeneity of …
[HTML][HTML] Gilbert syndrome in patients with inherited hemolytic anemia modifies the clinical phenotype
A Agrawal, J Chandra - Pediatric Hematology Oncology Journal, 2024 - Elsevier
Gilbert syndrome is a benign condition due to UGT1A1 mutations frequently resulting in
mild, indirect hyperbilirubinemia. Inherited hemolytic anemias often present with …
mild, indirect hyperbilirubinemia. Inherited hemolytic anemias often present with …
Disorders of abnormal hemoglobin
Hemoglobin abnormalities include globin chain defects resulting in the thalassemia
syndromes as well as structurally and functionally variant hemoglobins (Hbs) that may be …
syndromes as well as structurally and functionally variant hemoglobins (Hbs) that may be …
Hereditary Spherocytosis in the Neonatal Period: A Case Report.
A Will, CA Henderson, AJ Jnah… - Neonatal …, 2017 - connect.springerpub.com
Neonatal Network and amphetamines. Toxicology screening was negative at time of
delivery. Maternal and infant blood types were both O with negative direct antiglobulin test …
delivery. Maternal and infant blood types were both O with negative direct antiglobulin test …
Gilbert syndrome with systemic lupus erythematosus presenting with persistent unconjugated hyperbilirubinemia: A case report
N Ye, Z Zhou, H Gong, J Teng… - Experimental and …, 2020 - spandidos-publications.com
Gilbert syndrome (GS) is a hereditary unconjugated hyperbilirubinemia that results from
mutations in the bilirubin uridine diphosphate-glucuronosyltransferase (UGT1A1) gene. To …
mutations in the bilirubin uridine diphosphate-glucuronosyltransferase (UGT1A1) gene. To …
Genetic diagnosis history and osteoarticular phenotype of a non-transfusion secondary hemochromatosis
BACKGROUND It is not easy to identify the cause of various iron overload diseases
because the phenotypes overlap. Therefore, it is important to perform genetic testing to …
because the phenotypes overlap. Therefore, it is important to perform genetic testing to …