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Quoted phrase not found in phrase index: "Hereditary spherocytosis type 5"
Page 1
Genotype-phenotype correlation in children with hereditary spherocytosis.
Tole S, Dhir P, Pugi J, Drury LJ, Butchart S, Fantauzzi M, Langer JC, Baker JM, Blanchette VS, Kirby-Allen M, Carcao MD. Tole S, et al. Br J Haematol. 2020 Nov;191(3):486-496. doi: 10.1111/bjh.16750. Epub 2020 May 20. Br J Haematol. 2020. PMID: 32436265 Free article.
Hereditary spherocytosis (HS) is a common inherited haemolytic anaemia attributed to disturbances in five different red cell membrane proteins. ...Patients with ANK1 and SPTB variants showed a similar clinical phenotype. Within each gene, variant type or loca …
Hereditary spherocytosis (HS) is a common inherited haemolytic anaemia attributed to disturbances in five different red cell m …
Evaluation of Hepatic Iron Overload Using a Contemporary 0.55 T MRI System.
Campbell-Washburn AE, Mancini C, Conrey A, Edwards L, Shanbhag S, Wood J, Xue H, Kellman P, Bandettini WP, Thein SL. Campbell-Washburn AE, et al. J Magn Reson Imaging. 2022 Jun;55(6):1855-1863. doi: 10.1002/jmri.27950. Epub 2021 Oct 20. J Magn Reson Imaging. 2022. PMID: 34668604 Free PMC article.
PURPOSE: To characterize a high-performance 0.55 T MRI system for evaluating patients with liver iron overload. STUDY TYPE: Prospective. POPULATION: Forty patients with known or suspected iron overload (sickle cell anemia [n = 5], ss-thalassemia [n = 3], and here …
PURPOSE: To characterize a high-performance 0.55 T MRI system for evaluating patients with liver iron overload. STUDY TYPE: Prospecti …
Transglutaminase diseases: from biochemistry to the bedside.
Lorand L, Iismaa SE. Lorand L, et al. FASEB J. 2019 Jan;33(1):3-12. doi: 10.1096/fj.201801544R. FASEB J. 2019. PMID: 30593123
Loss of TG function is associated with numerous orphan diseases that affect a relatively small number of individuals: loss of FXIIIa (transamidase-activated form) crosslinking leads to defects in blood coagulation in FXIII deficiency; loss of TG1 and TG5 cross linking leads to de …
Loss of TG function is associated with numerous orphan diseases that affect a relatively small number of individuals: loss of FXIIIa (transa …
Hereditary spherocytosis in children: profile and post-splenectomy outcome.
Das A, Bansal D, Das R, Trehan A, Marwaha RK. Das A, et al. Indian Pediatr. 2014 Feb;51(2):139-41. doi: 10.1007/s13312-014-0348-5. Indian Pediatr. 2014. PMID: 24632695 Free article.
OBJECTIVE: To describe profile of 82 children with hereditary spherocytosis diagnosed over a period of 27 years (1985-2011) from a single center. ...CONCLUSION: Anemia, hepato-splenomegaly and jaundice are commonest clinical features of hereditary spherocy …
OBJECTIVE: To describe profile of 82 children with hereditary spherocytosis diagnosed over a period of 27 years (1985-2011) fr …
Distal Renal Tubular Acidosis in an Iranian Patient with Hereditary Spherocytosis.
Shahab-Movahed Z, Majd A, Siasi Torbati E, Zeinali S. Shahab-Movahed Z, et al. Iran Biomed J. 2021 Sep 1;25(5):359-67. doi: 10.52547/ibj.25.5.359. Iran Biomed J. 2021. PMID: 34481427 Free PMC article.
BACKGROUND: Hereditary spherocytosis (HS) and hereditary hereditary distal renal tubular acidosis (dRTA) are associated with mutations in the SLC4A1 gene encoding the anion exchanger 1. ...The compound heterozygous mutations manifested as idRTA and sev …
BACKGROUND: Hereditary spherocytosis (HS) and hereditary hereditary distal renal tubular acidosis (dRTA) are ass …
Splenectomy in hereditary spherocytosis: Review of 1,657 patients and application of the pediatric quality indicators.
Abdullah F, Zhang Y, Camp M, Rossberg MI, Bathurst MA, Colombani PM, Casella JF, Nabaweesi R, Chang DC. Abdullah F, et al. Pediatr Blood Cancer. 2009 Jul;52(7):834-7. doi: 10.1002/pbc.21954. Pediatr Blood Cancer. 2009. PMID: 19214973
OBJECTIVE: The objective of the present study is to profile the outcome and safety of pediatric patients undergoing splenectomy with hereditary spherocytosis (HS) using a nationwide sample and the Agency for Healthcare Research and Quality (AHRQ) Pediatric Quality I …
OBJECTIVE: The objective of the present study is to profile the outcome and safety of pediatric patients undergoing splenectomy with here …
Protein deficiency balance as a predictor of clinical outcome in hereditary spherocytosis.
Rocha S, Rebelo I, Costa E, Catarino C, Belo L, Castro EM, Cabeda JM, Barbot J, Quintanilha A, Santos-Silva A. Rocha S, et al. Eur J Haematol. 2005 May;74(5):374-80. doi: 10.1111/j.1600-0609.2004.00385.x. Eur J Haematol. 2005. PMID: 15813910 Free article.
Disruption of vertical interactions caused by membrane protein deficiencies in hereditary spherocytosis (HS), favor membrane vesiculation with development of spherocytic cells. ...The ratios between the value of the primary and/or secondary protein deficiencies show …
Disruption of vertical interactions caused by membrane protein deficiencies in hereditary spherocytosis (HS), favor membrane v …
A prospective study to assess the predictive value for hereditary spherocytosis using five laboratory tests (cryohemolysis test, eosin-5'-maleimide flow cytometry, osmotic fragility test, autohemolysis test, and SDS-PAGE) on 50 hereditary spherocytosis families in Argentina.
Crisp RL, Solari L, Vota D, García E, Miguez G, Chamorro ME, Schvartzman GA, Alfonso G, Gammella D, Caldarola S, Riccheri C, Vittori D, Venegas B, Nesse A, Donato H. Crisp RL, et al. Ann Hematol. 2011 Jun;90(6):625-34. doi: 10.1007/s00277-010-1112-0. Epub 2010 Nov 16. Ann Hematol. 2011. PMID: 21080168
This prospective study was carried out to assess the usefulness of five laboratory tests in the diagnosis of hereditary spherocytosis (HS), based on the correlation of erythrocyte membrane protein defects with clinical and laboratory features, and also to determine …
This prospective study was carried out to assess the usefulness of five laboratory tests in the diagnosis of hereditary spherocyto …
Concurrent Cholecystectomy Does Not Increase Splenectomy Morbidity in Patients With Hemolytic Anemia: A Pediatric NSQIP Analysis.
Mack SJ, Pace DJ, Patil S, Cooke-Barber J, Boelig MM, Berman L. Mack SJ, et al. J Pediatr Surg. 2024 Jan;59(1):117-123. doi: 10.1016/j.jpedsurg.2023.09.010. Epub 2023 Sep 21. J Pediatr Surg. 2024. PMID: 37833213

Splenectomy with cholecystectomy patients were older (10.9 years vs. 8.4 years, p < 0.01), more likely to have hereditary spherocytosis (56.1% vs. 40.8%, p < 0.01), less likely to have sickle cell disease (12.1% vs. 33.5%, p < 0.01), more likely ASA

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Splenectomy with cholecystectomy patients were older (10.9 years vs. 8.4 years, p < 0.01), more likely to have hereditary spher

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Rapid flow cytometric test for the diagnosis of membrane cytoskeleton-associated haemolytic anaemia.
King MJ, Behrens J, Rogers C, Flynn C, Greenwood D, Chambers K. King MJ, et al. Br J Haematol. 2000 Dec;111(3):924-33. Br J Haematol. 2000. PMID: 11122157
In this study, red cells from patients with hereditary spherocytosis (HS), congenital dyserythropoietic anaemia type II, South-east Asian ovalocytosis and cryohydrocytosis have produced a greater degree of reduction of mean channel fluorescence readings than …
In this study, red cells from patients with hereditary spherocytosis (HS), congenital dyserythropoietic anaemia type II …
14 results