相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Flow cytometric osmotic fragility test and eosin-5 '-maleimide dye-binding tests are better than conventional osmotic fragility tests for the diagnosis of hereditary spherocytosis
R. D. Arora et al.
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY (2018)
Advances in laboratory diagnosis of hereditary spherocytosis
Mariela Granero Farias
CLINICAL CHEMISTRY AND LABORATORY MEDICINE (2017)
Clinical utility of next-generation sequencing in the diagnosis of hereditary haemolytic anaemias
Archana M. Agarwal et al.
BRITISH JOURNAL OF HAEMATOLOGY (2016)
Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis
J. Park et al.
CLINICAL GENETICS (2016)
New insights on hereditary erythrocyte membrane defects
Immacolata Andolfo et al.
HAEMATOLOGICA (2016)
Detection of new pathogenic mutations in patients with congenital haemolytic anaemia using next-generation sequencing
R. Del Orbe Barreto et al.
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY (2016)
New insights on hereditary erythrocyte membrane defects
Immacolata Andolfo et al.
HAEMATOLOGICA (2016)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders
M. -J. King et al.
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY (2015)
Do UGT1A1 and HMOX1 gene promoter polymorphisms increase the risk of hyperbilirubinemia and gallstones in patients with hereditary spherocytosis?
Prashant Warang et al.
ANNALS OF HEMATOLOGY (2015)
Reporting and grading of abnormal red blood cell morphology
B. T. Constantino
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY (2015)
Comparison Study of the Eosin-5′-Maleimide Binding Test, Flow Cytometric Osmotic Fragility Test, and Cryohemolysis Test in the Diagnosis of Hereditary Spherocytosis
Sang Hyuk Park et al.
AMERICAN JOURNAL OF CLINICAL PATHOLOGY (2014)
UGT1A1 sequence variants associated with risk of adult hyperbilirubinemia: A quantitative analysis
Zhiwei Chen et al.
GENE (2014)
Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders
Lydie Da Costa et al.
BLOOD REVIEWS (2013)
Flow cytometric osmotic fragility testing does reflect the clinical severity of hereditary spherocytosis
Ye Jee Shim et al.
CYTOMETRY PART B-CLINICAL CYTOMETRY (2013)
Hereditary hemolytic anemia in Korea from 2007 to 2011: A study by the Korean Hereditary Hemolytic Anemia Working Party of the Korean Society of Hematology
Eun Sil Park et al.
BLOOD RESEARCH (2013)
Guidelines for the diagnosis and management of hereditary spherocytosis-2011 update
Paula H. B. Bolton-Maggs et al.
BRITISH JOURNAL OF HAEMATOLOGY (2012)
Diagnostic power of laboratory tests for hereditary spherocytosis: a comparison study in 150 patients grouped according to molecular and clinical characteristics
Paola Bianchi et al.
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL (2012)
Evaluation of eosin-5-maleimide flow cytometric test in diagnosis of hereditary spherocytosis
R. Kar et al.
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY (2010)
Target-enrichment strategies for next-generation sequencing
Lira Mamanova et al.
NATURE METHODS (2010)
APPLICATIONS OF NEXT-GENERATION SEQUENCING Sequencing technologies - the next generation
Michael L. Metzker
NATURE REVIEWS GENETICS (2010)
Genotype/phenotype correlation in hereditary spherocytosis
Achille Iolascon et al.
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL (2008)
Clinical and hematologic features of 300 patients affected by hereditary spherocytosis grouped according to the type of the membrane protein defect
Mariagabriella Mariani et al.
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL (2008)
Hereditary spherocytosis - Defects in proteins that connect the membrane skeleton to the lipid bilayer
S Eber et al.
SEMINARS IN HEMATOLOGY (2004)
Genetic polymorphisms of bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese patients with Crigler-Najjar syndrome or Gilbert's syndrome as well as in healthy Japanese subjects
K Takeuchi et al.
JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY (2004)
Abnormalities of erythrocyte membrane proteins in Korean patients with hereditary spherocytosis
YK Lee et al.
JOURNAL OF KOREAN MEDICAL SCIENCE (2000)