Cargando…

P1531: HETEROGENEITY OF DISEASE-CAUSING GENOTYPES BETWEEN FAMILIES WITH HEREDITARY SPHEROCYTOSIS: A SINGLE-CENTER COHORT STUDY

Detalles Bibliográficos
Autores principales:	Jimenez Heredia, R., Kager, L., Zeitlhofer, P., Novak, W., Eder, S., Segarra Roca, A., Nebral, K., Haimel, M., Geyeregger, R., Haas, O., Boztug, K.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Lippincott Williams & Wilkins 2022
Materias:	Posters
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9429065/ http://dx.doi.org/10.1097/01.HS9.0000848980.95853.19

Ejemplares similares

Case Report: Refractory Cytopenia With a Switch From a Transient Monosomy 7 to a Disease-Ameliorating del(20q) in a NHEJ1-Deficient Long-term Survivor
por: Poyer, Fiona, et al.
Publicado: (2022)

The Complexity of Genotype-Phenotype Correlations in Hereditary Spherocytosis: A Cohort of 95 Patients: Genotype-Phenotype Correlation in Hereditary Spherocytosis
por: van Vuren, Annelies, et al.
Publicado: (2019)

Genotype-degree of hemolysis correlation in hereditary spherocytosis
por: Shi, Yimeng, et al.
Publicado: (2023)

Hereditary Spherocytosis
por: Huq, Sayeeda, et al.
Publicado: (2010)

PB2295: EVANS SYNDROME AND PHENOTYPIC HETEROGENEITY OF SASH3 GERMLINE LOSS-OF-FUNCTION MUTATIONS BEYOND X-LINKED IMMUNODEFICIENCY
por: Berner, J., et al.
Publicado: (2022)

Hereditary spherocytosis and allied disorders
por: Russo, Roberta, et al.
Publicado: (2019)

Extramedullary paraspinal hematopoiesis in hereditary spherocytosis
por: Gogia, P., et al.
Publicado: (2008)

Hereditary spherocytosis: Consequences of delayed diagnosis
por: Steward, Sarah C, et al.
Publicado: (2014)

Paravertebral pseudotumor in patient with hereditary spherocytosis
por: Rabelo, Lêda Maria, et al.
Publicado: (2016)

Density, heterogeneity and deformability of red cells as markers of clinical severity in hereditary spherocytosis
por: Huisjes, Rick, et al.
Publicado: (2020)

Subtotal Splenectomy in Hereditary Spherocytosis - Advantages and Disadvantages
por: BICĂ, C., et al.
Publicado: (2016)

The Spectrum of SPTA1-Associated Hereditary Spherocytosis
por: Chonat, Satheesh, et al.
Publicado: (2019)

The diagnostic protocol for hereditary spherocytosis‐2021 update
por: Wu, Yangyang, et al.
Publicado: (2021)

Abnormalities of erythrocyte membrane proteins in Korean patients with hereditary spherocytosis.
por: Lee, Y. K., et al.
Publicado: (2000)

A case of concomitant Gilbert's syndrome and hereditary spherocytosis
por: Lee, Hee Jung, et al.
Publicado: (2010)

α-thalassaemia combined with hereditary spherocytosis in the same patient
por: Li, Xiaohong, et al.
Publicado: (2018)

Blood cell parameters for screening and diagnosis of hereditary spherocytosis
por: Liao, Lin, et al.
Publicado: (2019)

Corrigendum: The Spectrum of SPTA1-Associated Hereditary Spherocytosis
por: Chonat, Satheesh, et al.
Publicado: (2019)

Hereditary Spherocytosis as an Atypical Presentation of Anemia in Ulcerative Colitis
por: Cho, Moo, et al.
Publicado: (2021)

Two different pathogenic gene mutations coexisted in the same hereditary spherocytosis family manifested with heterogeneous phenotypes
por: Shen, Hongwei, et al.
Publicado: (2019)

Targeted mutation screening of 292 candidate genes in 38 children with inborn haematological cytopenias efficiently identifies novel disease‐causing mutations
por: Kager, Leo, et al.
Publicado: (2018)

Anaesthetic management of a case of hereditary spherocytosis for splenectomy and cholecystectomy
por: Chaithanya, Krishna, et al.
Publicado: (2014)

Nonimmune hydrops fetalis due to autosomal recessive hereditary spherocytosis
por: Hannah, Dawn M., et al.
Publicado: (2017)

Parvovirus B19-Infected Tubulointerstitial Nephritis in Hereditary Spherocytosis
por: Nishiyama, Kei, et al.
Publicado: (2020)

Distal Renal Tubular Acidosis in an Iranian Patient with Hereditary Spherocytosis
por: Shahab-Movahed, Zahra, et al.
Publicado: (2021)

Study on Management of Blood Transfusion Therapy in Patients with Hereditary Spherocytosis
por: Ma, Shiyue, et al.
Publicado: (2022)

Influence of diabetes and hypercholesterolemia on laboratory methods for hereditary spherocytosis diagnosis
por: Lazarova, Elena, et al.
Publicado: (2022)

Clinical and genetic diagnosis of thirteen Japanese patients with hereditary spherocytosis
por: Yamamoto, Keiko Shimojima, et al.
Publicado: (2022)

P1527: NEXT GENERATION SEQUENCING IN HEREDITARY SPHEROCYTOSIS DIAGNOSIS
por: García Feria, A., et al.
Publicado: (2022)

Hereditary spherocytosis complicated by intrahepatic cholestasis: two case reports
por: Han, Ning, et al.
Publicado: (2022)

P1499: GENETIC FACTORS OF IRON OVERLOAD IN HEREDITARY SPHEROCYTOSIS
por: Donaty, Lucie, et al.
Publicado: (2023)

Coinheritance of hereditary spherocytosis and reversibility of cirrhosis in a young female patient with hereditary hemochromatosis
por: Höblinger, A, et al.
Publicado: (2009)

The Indian population of central Mexico, 1531-1610 /
por: Cook, Sherburne Friend, 1896-1974
Publicado: (1960)

Complications of Evans' syndrome in an infant with hereditary spherocytosis: a case report
por: Yoshida, Hideki, et al.
Publicado: (2009)

Clinical course of 63 children with hereditary spherocytosis: a retrospective study
por: Oliveira, Maria Christina Lopes Araujo, et al.
Publicado: (2012)

Anesthetic management of a patient with hereditary spherocytosis for laparoscopic cholecystectomy and splenectomy
por: Bharne, Sidhesh, et al.
Publicado: (2012)

A case report of hereditary spherocytosis with concomitant chronic myelocytic leukemia
por: Xiaoqiu, Wang, et al.
Publicado: (2016)

Gilbert Syndrome with Concomitant Hereditary Spherocytosis Presenting with Moderate Unconjugated Hyperbilirubinemia
por: Aiso, Mitsuhiko, et al.
Publicado: (2017)

Genetic and Clinical Characteristics of Patients With Hereditary Spherocytosis in Hubei Province of China
por: Wang, Xiong, et al.
Publicado: (2020)

Transcatheter Closing Atrial Septal Defect in a Child With Hereditary Spherocytosis
por: Ji, Zhixian, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_qa7jko2t1p2opn9d3f35g854ge