Research & Literature
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Explore the leading researchers and institutions driving advances in this area, and dive into the full body of literature that informs this resource.
Visualize citation networks across 84 referenced papers
Top Authors
- Jessica R. MacNeil National Center for Immunization and Respiratory Diseases
- Sarah Mbaeyi Centers for Disease Control and Prevention
- Grace M. Lee Stanford University
- Antonio Di Sabatino University of Pavia
- Denis Spelman The Alfred Hospital
- B. Fantin Hôpital Beaujon
- Marco Vincenzo Lenti University of Pavia
- Rodolphe Buzelé Hôpital Beaujon
- Ian Woolley Monash University
- Sarah Luu Monash Health
Top Institutions
- National Center for Immunization and Respiratory Diseases Atlanta, United States Jessica R. MacNeil , Temitope Folaranmi , Jonathan Duffy , Manisha Patel , Catherine H. Bozio , Monica E. Patton , Amy Blain , Ismael R. Ortega‐Sanchez , Christine Harris , Melissa Whaley
- Centers for Disease Control and Prevention Atlanta, United States Sarah Mbaeyi , Stacey W. Martin , Lucy A. McNamara , Susan Hariri , Shannon Stokley , Xin Wang , A. Patricia Wodi , Sarah Meyer , Heidi M. Soeters , Sarah Schillie
- Pfizer (United States) New York, United States John L. Perez , Jamie Findlow , Annaliesa S. Anderson , Jessica Presa , Thomas R. Jones , Shannon L. Harris , Lisa K. McNeil , Paula Peyrani , Christopher Prener , Kathrin U. Jansen
- Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan, Italy Wilma Barcellini , Paola Bianchi , Anna Zaninoni , Bruno Fattizzo , Elisa Fermo , Cristina Vercellati , Juri Alessandro Giannotta , Anna Paola Marcello , Agostino Cortelezzi , Giada Di Pietro
- University of Pavia Pavia, Italy Antonio Di Sabatino , Marco Vincenzo Lenti , Paolo Giuffrida , Edoardo Errichiello , Orsetta Zuffardi , Nicola Aronico , Giovanni Santacroce , Carlo Maria Rossi , Francesco Paolo Tinozzi , Alessandro Vanoli
- Emory University Atlanta, United States David S. Stephens , Madhuri Hegde , F. Eun-Hyung Lee , Igñacio Sanz , Emilio I. Rodriguez , Hirotomo Nakahara , Kimberly Workowski , Craig M. Coopersmith , Greg S. Martin , Yih‐Ling Tzeng
- Broad Institute Cambridge, United States Konrad J. Karczewski , Jessica Lacy , David E. Root , David M. Sabatini , Pankaj B. Agrawal , Aarno Palotie , Andrea Ganna , Andrea Saltzman , Anne O’Donnell‐Luria , Arcturus Wang
- Veterans Health Administration Washington, United States Lorry G. Rubin , Elias D. Kima , Emiliano N. Mugnaini , Victor E. Nava , Uzo Chukwuma , Aleksandra Wierzbowski
- GlaxoSmithKline (United States) Philadelphia, United States Oscar Herrera-Restrepo , Parinaz Ghaswalla , Cosmina Hogea , Woo-Yun Sohn , Shravani Bobde , Cynthia Burman , Patricia Novy , Linda K. Han , Peter Dull , Gaurav Mathur
- Bambino Gesù Children's Hospital Rome, Italy Rita Carsetti , Martin H. Steinberg , Eva Piano Mortari , Alaitz Aranburu , Akshay Sharma , Giulia Ceglie , Massimo Rollo , Veronica Bordoni , Simona Cascioli , Francesco Corrente
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References
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Detection of red blood cell antibodies in mitogen-stimulated cultures from patients with hereditary spherocytosis.
Zaninoni A, Vercellati C, Imperiali FG, et al.
Transfusion 2015; (55(12)):2930-8 doi:10.1111/trf.13257.
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[Flow cytometric test using eosin-5'-maleimide (EMA) labelling of red blood for diagnosis of hereditary spherocytosis].
Wang J, Zheng B, Zhao Y, et al.
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi 2015; (36(7)):598-601 doi:10.3760/cma.j.issn.0253-2727.2015.07.015.
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Hereditary Spherocytosis Unmasked by Human Parvovirus B19 Induced Aplastic Crisis in a Family.
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Medical complications following splenectomy.
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[Impaired immunity: risk groups and consequences for general practice].
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Total versus partial splenectomy in pediatric hereditary spherocytosis: A systematic review and meta-analysis.
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Pediatric blood & cancer 2016; (63(10)):1713-22 doi:10.1002/pbc.26106.
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Hereditary Spherocytosis with Splenomegaly and Cholelithiasis in a Young Male of Western Region of Nepal - A Case Report.
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Spleen Australia guidelines for the prevention of sepsis in patients with asplenia and hyposplenism in Australia and New Zealand.
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Hereditary Spherocytosis - Diagnosis, Surgical Treatment and Outcomes. A Literature Review.
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[Correlation of the degree of band 3 protein absence on erythrocyte membrane by eosin-5'-maleimide binding test and clinical phenotype in hereditary spherocytosis].
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Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi 2017; (38(6)):537-541 doi:10.3760/cma.j.issn.0253-2727.2017.06.014.
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Hereditary Spherocytosis in the Neonatal Period: A Case Report.
Will A, Henderson CA, Jnah AJ, Newberry D
Neonatal network : NN 2017; (36(5)):280-288 doi:10.1891/0730-0832.36.5.280.
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Genetic diagnosis and pathogenic analysis of an atypical hereditary spherocytosis combined with UGT1A1 partial deficiency: A case report.
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Molecular medicine reports 2018; (17(1)):382-387 doi:10.3892/mmr.2017.7867.
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Identification of a novel de novo ANK1 R1426* nonsense mutation in a Chinese family with hereditary spherocytosis by NGS.
Wang X, Yi B, Mu K, et al.
Oncotarget 2017; (8(57)):96791-96797 doi:10.18632/oncotarget.18243.
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An ANK1 IVS3-2A>C mutation causes exon 4 skipping in two patients from a Chinese family with hereditary spherocytosis.
Wang X, Mao L, Shen N, et al.
Oncotarget 2017; (8(68)):113282-113286 doi:10.18632/oncotarget.22936.
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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.
Arora RD, Dass J, Maydeo S, et al.
International journal of laboratory hematology 2018; (40(3)):335-342 doi:10.1111/ijlh.12794.
PMID: 29573337 - 18
Cryohemolysis, erythrocyte osmotic fragility, and supplementary hematimetric indices in the diagnosis of hereditary spherocytosis.
Emilse LAM, Cecilia H, María TM, et al.
Blood research 2018; (53(1)):10-17 doi:10.5045/br.2018.53.1.10.
PMID: 29662857 - 19
Old and new insights into the diagnosis of hereditary spherocytosis.
Ciepiela O
Annals of translational medicine 2018; (6(17)):339 doi:10.21037/atm.2018.07.35.
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Hereditary spherocytosis: Retrospective evaluation of 65 children.
Güngör A, Yaralı N, Fettah A, et al.
The Turkish journal of pediatrics 2018; (60(3)):264-269.
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Subtotal Splenectomy in Hereditary Spherocytosis - Advantages and Disadvantages.
Bică C, Cismaru L, Stănescu L, et al.
Current health sciences journal 2016; (42(4)):408-412 doi:10.12865/CHSJ.42.04.11.
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Surgical management of hereditary spherocytosis Current strategies.
Vecchio R, Cacciola E, Cacciola RR, Intagliata E
Annali italiani di chirurgia 2018; (89()):473-478.
PMID: 30665218 - 23
Laparoscopic splenectomy for hereditary spherocytosis. A case series and review of the literature.
Zaharie F, Muresan MS, Tomuleasa C, Popa G
Annali italiani di chirurgia 2018; (89()):569-571.
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Whole exome sequencing identified a novel mutation (p.Ala1884Pro) of β-spectrin in a Chinese family with hereditary spherocytosis.
Fan LL, Liu JS, Huang H, et al.
The journal of gene medicine 2019; (21(2-3)):e3073 doi:10.1002/jgm.3073.
PMID: 30690801 - 25
A de novo ANK1 mutation associated to hereditary spherocytosis: a case report.
Huang TL, Sang BH, Lei QL, et al.
BMC pediatrics 2019; (19(1)):62 doi:10.1186/s12887-019-1436-4.
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Mild Hereditary Spherocytosis without Accompanying Hereditary Haemochromatosis: An Unrecognised Cause of Iron Overload.
Tole S, Amid A, Baker J, et al.
Acta haematologica 2019; (141(4)):256-260 doi:10.1159/000497175.
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[Clinical characteristics and genetic analysis of hereditary spherocytosis caused by mutations of ANK1 and SPTB genes].
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Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2019; (21(4)):370-374.
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Flow Cytometric Test with Eosin-5-Maleimide for a Diagnosis of Hereditary Spherocytosis in a Newborn.
Fanhchaksai K, Manowong S, Natesirinilkul R, et al.
Case reports in hematology 2019; (2019()):5925731 doi:10.1155/2019/5925731.
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Clinical and laboratory outcomes following total or partial splenectomy in patients with hereditary spherocytosis.
Tripodi SI, Shamberger RC, Heeney MM, Tubman VN
Pediatric hematology and oncology 2019; (36(6)):382-389 doi:10.1080/08880018.2019.1637983.
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A previously unrecognized Ankyrin-1 mutation associated with Hereditary Spherocytosis in an Italian family.
Lazzareschi I, Curatola A, Pedicelli C, et al.
European journal of haematology 2019; (103(5)):523-526 doi:10.1111/ejh.13311.
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Post-splenectomy sepsis: preventative strategies, challenges, and solutions.
Luu S, Spelman D, Woolley IJ
Infection and drug resistance 2019; (12()):2839-2851 doi:10.2147/IDR.S179902.
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Deciphering molecular heterogeneity of Indian families with hereditary spherocytosis using targeted next-generation sequencing: First South Asian study.
Aggarwal A, Jamwal M, Sharma P, et al.
British journal of haematology 2020; (188(5)):784-795 doi:10.1111/bjh.16244.
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A tetranucleotide deletion in the ANK1 gene causes hereditary spherocytosis; a case of misdiagnosis.
Zhu F, Liang M, Xu L, et al.
Gene 2020; (726()):144226 doi:10.1016/j.gene.2019.144226.
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[Hereditary spherocytosis in the experience of two pediatric clinics from Targu Mures].
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Orvosi hetilap 2019; (160(45)):1798-1803 doi:10.1556/650.2019.31345.
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A family affair-Severe fetal and neonatal hemolytic anemia due to novel alpha-spectrin mutations in two siblings.
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American journal of medical genetics. Part A 2020; (182(3)):561-564 doi:10.1002/ajmg.a.61455.
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Pneumococcal purpura fulminans in asplenic or hyposplenic patients: a French multicenter exposed-unexposed retrospective cohort study.
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Critical care (London, England) 2020; (24(1)):68 doi:10.1186/s13054-020-2769-y.
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[Progress on Laboratory Diagnosis of Hereditary Spherocytosis--Review].
Zheng LP, Bai LH, Huang H, Yi Y
Zhongguo shi yan xue ye xue za zhi 2020; (28(2)):704-707 doi:10.19746/j.cnki.issn.1009-2137.2020.02.059.
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Genotype-phenotype correlation in children with hereditary spherocytosis.
Tole S, Dhir P, Pugi J, et al.
British journal of haematology 2020; (191(3)):486-496 doi:10.1111/bjh.16750.
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Audit of Post-Splenectomy Prophylaxis in a Single Tertiary Center in Slovenia: Where Are We and What Should Be Done?
Horvat M, Robnik B, Bizjak K, et al.
Surgical infections 2021; (22(3)):292-298 doi:10.1089/sur.2020.038.
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Exome sequencing for diagnosis of congenital hemolytic anemia.
Mansour-Hendili L, Aissat A, Badaoui B, et al.
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Parvovirus-Induced Transient Aplastic Crisis in a Patient With Newly Diagnosed Hereditary Spherocytosis.
Nandu NS, Hafzah H, Patel C
Cureus 2020; (12(7)):e8995 doi:10.7759/cureus.8995.
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Hereditary spherocytosis overlooked for 7 years in a pediatric patient with β-thalassemia trait and novel compound heterozygous mutations of SPTA1 gene.
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Hematology (Amsterdam, Netherlands) 2020; (25(1)):438-445 doi:10.1080/16078454.2020.1846874.
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Preventing infections in children and adults with asplenia.
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Meningococcal Vaccination: Recommendations of the Advisory Committee on Immunization Practices, United States, 2020.
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Partial splenectomy in children: Long-term reoperative outcomes☆.
Hafezi N, Carpenter KL, Colgate CL, et al.
Journal of pediatric surgery 2021; (56(11)):1998-2004 doi:10.1016/j.jpedsurg.2021.01.005.
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A Novel de novo Mutation in ANK1 Gene Identified through Targeted Next-Generation Sequencing in a Neonate with Hereditary Spherocytosis.
Jang W, Kim SK, Nahm CH, et al.
Annals of clinical and laboratory science 2021; (51(1)):136-139.
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Biochemical, Cellular, and Proteomic Characterization of Hereditary Spherocytosis Among Tunisians.
Trabelsi N, Bouguerra G, Haddad F, et al.
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Hemophagocytic lymphohistiocytosis associated with parvovirus B19-induced aplastic crisis in a hereditary spherocytosis patient: A case report and literature review.
Kim KT, Hong KT, Kim BK, et al.
Pediatric hematology and oncology 2022; (39(2)):158-165 doi:10.1080/08880018.2021.1949082.
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Comparison of a modified flow cytometry osmotic fragility test with the classical method for the diagnosis of hereditary spherocytosis.
Shahal-Zimra Y, Nosgorodcky Y, Eshel E, et al.
Cytometry. Part B, Clinical cytometry 2022; (102(5)):377-383 doi:10.1002/cyto.b.22032.
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Identification of a Novel Mutation of β-Spectrin in Hereditary Spherocytosis Using Whole Exome Sequencing.
Bogusławska DM, Skulski M, Machnicka B, et al.
International journal of molecular sciences 2021; (22(20)) doi:10.3390/ijms222011007.
PMID: 34681667 - 51
Super-Selective Partial Splenic Embolization for Hereditary Spherocytosis in Children: A Single-Center Retrospective Study.
Wang RJ, Xiao L, Xu XM, et al.
Frontiers in surgery 2022; (9()):835430 doi:10.3389/fsurg.2022.835430.
PMID: 35284491 - 52
A Novel SPTA1 Mutation in a Patient with Hereditary Spherocytosis without a Family History and Coexisting Gilbert's Syndrome.
Nato Y, Kageyama Y, Suzuki K, et al.
Internal medicine (Tokyo, Japan) 2023; (62(1)):107-111 doi:10.2169/internalmedicine.9478-22.
PMID: 35650129 - 53
Hereditary spherocytosis before and after splenectomy and risk of hospitalization for infection.
Liu Y, Jin S, Xu R, et al.
Pediatric research 2023; (93(5)):1336-1341 doi:10.1038/s41390-022-02229-y.
PMID: 35915237 - 54
Effect of primary lesions in cytoskeleton proteins on red cell membrane stability in patients with hereditary spherocytosis.
Vercellati C, Marcello AP, Fattizzo B, et al.
Frontiers in physiology 2022; (13()):949044 doi:10.3389/fphys.2022.949044.
PMID: 36035481 - 55
Identification of variants in 94 Chinese patients with hereditary spherocytosis by next-generation sequencing.
Wang WJ, Xie JD, Yao H, et al.
Clinical genetics 2023; (103(1)):67-78 doi:10.1111/cge.14244.
PMID: 36203343 - 56
Asplenia and spleen hypofunction.
Lenti MV, Luu S, Carsetti R, et al.
Nature reviews. Disease primers 2022; (8(1)):71 doi:10.1038/s41572-022-00399-x.
PMID: 36329079 - 57
A 6-Day-Old Male Infant with Severe Hyperbilirubinemia Diagnosed with Hereditary Spherocytosis at a Tertiary Hospital in East Java, Indonesia: A Diagnostic and Management Challenge in a Developing Country.
Corebima BIRV, Monica C, Sulistijono E, et al.
The American journal of case reports 2022; (23()):e937416 doi:10.12659/AJCR.937416.
PMID: 36399434 - 58
The new landscape of differentially expression proteins in placenta tissues of gestational diabetes based on iTRAQ proteomics.
Ge L, Huang P, Miao H, et al.
Placenta 2023; (131()):36-48 doi:10.1016/j.placenta.2022.11.012.
PMID: 36473392 - 59
Treatment of asymptomatic gallstones in children with hereditary spherocytosis requiring splenectomy.
Liu Y, Jin S, Li Y, et al.
Journal of pediatric surgery 2023; (58(4)):756-761 doi:10.1016/j.jpedsurg.2022.11.012.
PMID: 36588038 - 60
Targeted next-generation sequencing identifies novel deleterious variants in ANK1 gene causing severe hereditary spherocytosis in Indian patients: expanding the molecular and clinical spectrum.
More TA, Devendra R, Dongerdiye R, et al.
Molecular genetics and genomics : MGG 2023; (298(2)):427-439 doi:10.1007/s00438-022-01984-1.
PMID: 36598564 - 61
Novel Variant of the SLC4A1 Gene Associated with Hereditary Spherocytosis.
Bogusławska DM, Kraszewski S, Skulski M, et al.
Biomedicines 2023; (11(3)) doi:10.3390/biomedicines11030784.
PMID: 36979763 - 62
Membrane Protein Detection and Morphological Analysis of Red Blood Cells in Hereditary Spherocytosis by Confocal Laser Scanning Microscopy.
Rey-Barroso L, Roldán M, Burgos-Fernández FJ, et al.
Microscopy and microanalysis : the official journal of Microscopy Society of America, Microbeam Analysis Society, Microscopical Society of Canada 2023; (29(2)):777-785 doi:10.1093/micmic/ozac055.
PMID: 37749743 - 63
Hematological characteristics and hepatobiliary complications of hereditary spherocytosis in a tertiary care pediatric center: optimizing diagnosis and care through local and international networks.
Boaro MP, Reggiani G, D'Agnolo M, et al.
Frontiers in pediatrics 2023; (11()):1269645 doi:10.3389/fped.2023.1269645.
PMID: 37886235 - 64
Temporal trends of splenectomy in pediatric hospitalizations with hereditary spherocytosis from 2000 to 2019: A national survey.
Guizzetti L
Pediatric blood & cancer 2024; (71(4)):e30869 doi:10.1002/pbc.30869.
PMID: 38316689 - 65
Novel mutation in alpha-spectrin gene in Saudi patients with hereditary spherocytosis.
Alshomar A, Ahmed AA, Rasheed Z, et al.
Nucleosides, nucleotides & nucleic acids 2024; (43(11)):1282-1301 doi:10.1080/15257770.2024.2310703.
PMID: 38319988 - 66
Hereditary spherocytosis in a young female in Eastern Nepal: a case report.
Rayamajhi A, Shrestha M, K C P, Maskey R
Annals of medicine and surgery (2012) 2024; (86(3)):1810-1813 doi:10.1097/MS9.0000000000001804.
PMID: 38463107 - 67
Coexistence of hereditary spherocytosis with SPTB P.Trp1150 gene variant and Gilbert syndrome: A case report and literature review.
Chi C, Wu S, Zhou W, et al.
Open life sciences 2024; (19(1)):20220904 doi:10.1515/biol-2022-0904.
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Laparoscopic cholecystectomy for symptomatic cholelithiasis in children and adolescents: analysis of 50 cases from a single institution.
Almeida RQ, Gerardi Filho VA, Dias JLF, et al.
Acta cirurgica brasileira 2024; (39()):e394124 doi:10.1590/acb394124.
PMID: 39046043 - 69
A Case of Adult Hereditary Spherocytosis Concomitant with Gilbert Syndrome Caused by Mutations in SPTB and UGT1A1.
Gou Y, Wang P, Yang W, et al.
Journal of inflammation research 2024; (17()):5977-5983 doi:10.2147/JIR.S483493.
PMID: 39247838 - 70
Naturopathic Management of Hereditary Spherocytosis: A Case Report.
Appukuttan L LK, Nair A, Hima L
Alternative therapies in health and medicine 2024; (30(11)):50-53.
PMID: 39316539 - 71
Overview on Hereditary Spherocytosis Diagnosis.
Polizzi A, Dicembre LP, Failla C, et al.
International journal of laboratory hematology 2025; (47(1)):18-25 doi:10.1111/ijlh.14376.
PMID: 39467036 - 72
Identification and functional analysis of novel SPTB and ANK1 mutations in hereditary spherocytosis patients.
Panarach C, Netsawang C, Nuchprayoon I, Leecharoenkiat K
Scientific reports 2024; (14(1)):27362 doi:10.1038/s41598-024-78622-w.
PMID: 39521890 - 73
Identification of a novel SPTB gene splicing mutation in hereditary spherocytosis: a case report and diagnostic insights.
Li X, Zhang T, Li X, et al.
Frontiers in genetics 2024; (15()):1522204 doi:10.3389/fgene.2024.1522204.
PMID: 39959857 - 74
An overview of hereditary spherocytosis and the curative effects of splenectomy.
Turpaev K, Bovt E, Shakhidzhanov S, et al.
Frontiers in physiology 2025; (16()):1497588 doi:10.3389/fphys.2025.1497588.
PMID: 40008208 - 75
Association between hereditary spherocytosis and gallstone disease: Pathophysiology, diagnosis, and management.
Cong S, Wang YN, Wang JR, Duan RH
World journal of gastrointestinal surgery 2025; (17(7)):105033 doi:10.4240/wjgs.v17.i7.105033.
PMID: 40740904 - 76
Long-Term Outcome After Partial Splenectomy Compared to Total Splenectomy in Children With Spherocytosis.
Tessier B, Bonnard A, Hery G, et al.
Journal of pediatric surgery 2025; (60(11)):162508 doi:10.1016/j.jpedsurg.2025.162508.
PMID: 40774475 - 77
Pediatric splenectomy for hematologic disorders: two-decade experience and prophylactic cholecystectomy outcomes.
Uzaslan O, Hakalmaz AE, Ocak S, et al.
BMC surgery 2025; (25(1)):359 doi:10.1186/s12893-025-03107-0.
PMID: 40783526 - 78
A case report of hereditary spherocytosis complicated by massive splenomegaly and cholelithiasis.
Sun Q, Yu Y, Song L, Liang L
Journal of surgical case reports 2025; (2025(8)):rjaf602 doi:10.1093/jscr/rjaf602.
PMID: 40800646 - 79
Hereditary Spherocytosis: Review of Presentation at Birth.
Achenjang NS, Jadczak E, Ryan RM, Nock ML
Children (Basel, Switzerland) 2025; (12(9)) doi:10.3390/children12091207.
PMID: 41007072 - 80
Coexistence of Hereditary Spherocytosis, Beta-Thalassemia Trait and Gilbert Syndrome in a Newborn: A Rare Genetic Profile.
Kapoor S, Gupta P
Fetal and pediatric pathology 2025; (44(6)):589-593 doi:10.1080/15513815.2025.2565487.
PMID: 41014001 - 81
A novel ANK1 frameshift mutation associated with neonatal hereditary spherocytosis: a case report.
Qing X, Zhu J, Zhu X, et al.
Frontiers in pediatrics 2025; (13()):1666585 doi:10.3389/fped.2025.1666585.
PMID: 41050359 - 82
Hereditary spherocytosis concomitant with JAK2V617F-positive primary myelofibrosis: a case report.
Qiu CE, Lei L, Jiang G, et al.
Frontiers in oncology 2025; (15()):1665179 doi:10.3389/fonc.2025.1665179.
PMID: 41179685 - 83
Confounding Factors in the Diagnosis of Hereditary Spherocytosis and Gallstone Formation in Related Hemolytic Disorders From a Tertiary Care Center in North India.
Athar R, Kashyap R, Gupta J
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Parvovirus B19-Induced Aplastic Crisis and Hemophagocytic Lymphohistiocytosis in a Child With Hereditary Spherocytosis.
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