Hereditary spherocytosis (Q34014255)

30 July 2017

Hereditary spherocytosis. (English)

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30 July 2017

1 reference

3

Narla Mohandas

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30 July 2017

Silverio Perrotta

1

1 reference

PubMed ID

18940465

30 July 2017

Patrick G Gallagher

series ordinal

2

1 reference

PubMed ID

18940465

30 July 2017

language of work or name

English

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publication date

1 October 2008

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30 July 2017

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30 July 2017

372

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30 July 2017

1411-1426

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30 July 2017

9647

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Hereditary spherocytosis--defects in proteins that connect the membrane skeleton to the lipid bilayer

30 July 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Studies on herediatary spherocytosis in Iceland

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

High prevalence of increased osmotic fragility of red blood cells among Norwegian blood donors

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Prevalence of increased osmotic fragility of erythrocytes in German blood donors: screening using a modified glycerol lysis test

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Erythropoiesis: Hereditary Spherocytosis in Greece: Collective Data on a Large Number of Patients

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Red cell membrane protein deficiencies in Mexican patients with hereditary spherocytosis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Hereditary spherocytosis: identification of several HS families with ankyrin and band 3 deficiency in a population of southwestern Poland

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Defects in ankyrin-based cellular pathways in metazoan physiology

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Characterization of red cell membrane proteins as a function of red cell density: annexin VII in different forms of hereditary spherocytosis.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Tropomyosin modulates erythrocyte membrane stability

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Deformation-enhanced fluctuations in the red cell skeleton with theoretical relations to elasticity, connectivity, and spectrin unfolding

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Analysis of integral membrane protein contributions to the deformability and stability of the human erythrocyte membrane

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https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

The molecular basis of hereditary red cell membrane disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Decreased membrane mechanical stability and in vivo loss of surface area reflect spectrin deficiencies in hereditary spherocytosis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Deficient red-cell spectrin in severe, recessively inherited spherocytosis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Hematologically important mutations: ankyrin variants in hereditary spherocytosis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Sequences downstream of the erythroid promoter are required for high level expression of the human alpha-spectrin gene

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Recurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Beta spectrin kissimmee: a spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Frequent de novo monoallelic expression of beta-spectrin gene (SPTB) in children with hereditary spherocytosis and isolated spectrin deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Clinical and molecular evaluation of non-dominant hereditary spherocytosis

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https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Combination of two mutant alpha spectrin alleles underlies a severe spherocytic hemolytic anemia

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Coinheritance of two alpha-spectrin gene defects in a recessive spherocytosis family

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Different impacts of alleles alphaLEPRA and alphaLELY as assessed versus a novel, virtually null allele of the SPTA1 gene in trans

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Erythrocyte membrane protein alterations underlying clinical heterogeneity in hereditary spherocytosis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Simultaneous (AC)n microsatellite polymorphism analysis and single-stranded conformation polymorphism screening is an efficient strategy for detecting ankyrin-1 mutations in dominant hereditary spherocytosis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

A complex splicing defect associated with homozygous ankyrin-deficient hereditary spherocytosis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

High frequency of de novo mutations in ankyrin gene (ANK1) in children with hereditary spherocytosis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

A recurrent frameshift mutation of the ankyrin gene associated with severe hereditary spherocytosis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Erythrocyte Ankyrin Promoter Mutations Associated with Recessive Hereditary Spherocytosis Cause Significant Abnormalities in Ankyrin Expression

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

A dinucleotide deletion in the ankyrin promoter alters gene expression, transcription initiation and TFIID complex formation in hereditary spherocytosis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Hereditary spherocytosis associated with deletion of human erythrocyte ankyrin gene on chromosome 8

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Kallmann syndrome in a patient with congenital spherocytosis and an interstitial 8p11.2 deletion.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Duplication of 10 nucleotides in the erythroid band 3 (AE1) gene in a kindred with hereditary spherocytosis and band 3 protein deficiency (band 3PRAGUE).

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Heterogenous band 3 deficiency in hereditary spherocytosis related to different band 3 gene defects

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https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Band 3 anion exchanger and its involvement in erythrocyte and kidney disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Band 3Tambaú: a de novo mutation in the AE1 gene associated with hereditary spherocytosis. Implications for anion exchange and insertion into the red blood cell membrane

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Identification of quantitative trait loci that modify the severity of hereditary spherocytosis in wan, a new mouse model of band-3 deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Band 3 Cape Town (E90K) causes severe hereditary spherocytosis in combination with band 3 Prague III.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

A band 3-based macrocomplex of integral and peripheral proteins in the RBC membrane

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

The N-terminal 11 amino acids of human erythrocyte band 3 are critical for aldolase binding and protein phosphorylation: implications for band 3 function

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Thrombo-embolic disease after splenectomy for hereditary stomatocytosis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Protein-4.2 association with band 3 (AE1, SLCA4) in Xenopus oocytes: effects of three natural protein-4.2 mutations associated with hemolytic anemia.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Absence of CD47 in protein 4.2-deficient hereditary spherocytosis in man: an interaction between the Rh complex and the band 3 complex

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Evidence that the red cell skeleton protein 4.2 interacts with the Rh membrane complex member CD47.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

RH blood group system and molecular basis of Rh-deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Rh-deficiency syndrome

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https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Rh-RhAG/ankyrin-R, a new interaction site between the membrane bilayer and the red cell skeleton, is impaired by Rh(null)-associated mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Molecular biology and genetics of the Rh blood group system

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Variable clinical severity of hereditary spherocytosis: relation to erythrocytic spectrin concentration, osmotic fragility, and autohemolysis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Inheritance pattern and clinical response to splenectomy as a reflection of erythrocyte spectrin deficiency in hereditary spherocytosis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Red blood cell indexes in patients in patients with hereditary spherocytosis and beta-thalassemia combination

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Hereditary spherocytosis in association with severe G6PD deficiency: report of an unusual case

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Interaction of sickle cell trait with hereditary spherocytosis: splenic infarcts and sequestration

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Erythropoietin production and erythropoiesis in compensated and anaemic states of hereditary spherocytosis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Pregnancy and hereditary spherocytosis. Report of 8 patients and a review

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Diagnosis of hereditary spherocytosis in newborn infants

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Incidence of hereditary spherocytosis in a population of jaundiced neonates.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Kernicterus Associated with Hereditary Spherocytosis and UGT1A1 Promoter Polymorphism

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Recombinant erythropoietin therapy as an alternative to blood transfusions in infants with hereditary spherocytosis.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

High incidence of early cholelithiasis detected by ultrasonography in children and young adults with hereditary spherocytosis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

The role of prophylactic cholecystectomy during splenectomy in children with hereditary spherocytosis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Haematological consequences of parvovirus B19 infection

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Human parvovirus infection revealing hereditary spherocytosis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Leg ulcer in hereditary spherocytosis.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Extramedullary hematopoiesis in a child with hereditary spherocytosis: an uncommon cause of an adrenal mass.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Angioid streaks associated with hereditary spherocytosis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Acute lymphoblastic leukaemia in a child with hereditary spherocytosis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Direct antiglobulin test negative, non spherocytic autoimmune haemolytic anaemia

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Temporal differences in membrane loss lead to distinct reticulocyte features in hereditary spherocytosis and in immune hemolytic anemia

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Flow-cytometric analysis of erythrocytes and reticulocytes in congenital dyserythropoietic anaemia type II (CDA II): value in differential diagnosis with hereditary spherocytosis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term observation

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Red cell abnormalities in hereditary spherocytosis: relevance to diagnosis and understanding of the variable expression of clinical severity

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Assessment of the severity of hereditary spherocytosis using routine haematological data obtained with dual angle laser scattering cytometry

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Normal erythrocyte osmotic fragility in hereditary spherocytosis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Eosin-5-maleimide binding to band 3 and Rh-related proteins forms the basis of a screening test for hereditary spherocytosis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Flow cytometry as a diagnostic tool for hereditary spherocytosis.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Combined ankyrin and spectrin deficiency in hereditary spherocytosis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Relapse in hereditary spherocytosis with proven splenunculus

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Asplenic-hyposplenic overwhelming sepsis: postsplenectomy sepsis revisited

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Guidelines for the prevention and treatment of infection in patients with an absent or dysfunctional spleen

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Update of guidelines for the prevention and treatment of infection in patients with an absent or dysfunctional spleen

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Estimating the risk for sepsis after splenectomy in hereditary spherocytosis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Frequency of very late fatal sepsis after splenectomy for hereditary spherocytosis: impact of insufficient antibody response to pneumococcal infection

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

The morbidity and mortality of pediatric splenectomy: does prophylaxis make a difference?

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Prevention of life-threatening infections due to encapsulated bacteria in children with hyposplenia or asplenia: a brief review of current recommendations for practical purposes

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Vaccination considerations in the asplenic patient

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Immunogenicity of sequential pneumococcal vaccination in subjects splenectomised for hereditary spherocytosis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

The prevention and treatment of bacterial infections in children with asplenia or hyposplenia: practice considerations at the Hospital for Sick Children, Toronto

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Spherocytosis, splenectomy, strokes, and heat attacks

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Laboratory markers of thrombosis risk in children with hereditary spherocytosis.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Delayed pulmonary hypertension following splenectomy for congenital spherocytosis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Increased erythrocyte adhesion in mice and humans with hereditary spherocytosis and hereditary elliptocytosis.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Arteriosclerotic events are less frequent in persons with chronic anemia: Evidence from families with hereditary spherocytosis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Guidelines for the diagnosis and management of hereditary spherocytosis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

National trends in the utilization of cholecystectomy in children

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Laparoscopic cholecystectomy in children with chronic hemolytic anemia. Is the outcome related to the timing of the procedure?

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Contribution of silent gallstones in gallbladder cancer

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Comparison of laparoscopic and open splenectomy in children with hematologic disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Laparoscopic splenic procedures in children: experience in 231 children

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Long-term evaluation of the beneficial effect of subtotal splenectomy for management of hereditary spherocytosis.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Clinical and hematologic benefits of partial splenectomy for congenital hemolytic anemias in children

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Partial splenic embolization for the treatment of hereditary spherocytosis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Near-total splenectomy for hereditary spherocytosis: clinical prospects in relation to disease severity

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Laparoscopic subtotal splenectomy in hereditary spherocytosis : to preserve the upper or the lower pole of the spleen?

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

Post-splenectomy antibiotic prophylaxis--unfinished story: to treat or not to treat?

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2808%2961588-3

7 January 2021

10.1016/S0140-6736(08)61588-3

Identifiers

DOI

1 reference

30 July 2017

1 reference

PubMed ID

18940465