[Paediatric Gaucher disease type 1: diagnostic challenges in presence of hepatosplenomegaly and pancytopenia] [0.03%]
[儿科戈谢病1型：肝脾肿大和全血细胞减少情况下的诊断挑战]
Wendkuni Myriam Nikièma Minoungou,Rolande Kabore,Omar Sourabié et al.
Wendkuni Myriam Nikièma Minoungou et al.
Gaucher disease is a rare, autosomal recessive lysosomal storage disorder caused by a deficiency of acid beta-glucocerebrosidase (Enzyme Commission 3.2.1.45). Its clinical presentation is polymorphic, dominated by hepatosplenomegaly and cyt...
[Dr Anne-Marie Gallot: a commitment to public service, clinical biology and public health] [0.03%]
Anne-Marie Gallot教授：公共服务、临床生物学和公共卫生之誓
Jean-Louis Beaudeux
Jean-Louis Beaudeux
[Immunoglobulin D lambda multiple myeloma: diagnosis guided by light chain deposition nephropathy] [0.03%]
免疫球蛋白Dλ型多发性骨髓瘤1例并LIGHT链沉积肾小球病引导诊断
Hajar Dahou,Mohamed Rida Znady,Imane Aragon et al.
Hajar Dahou et al.
Immunoglobulin D (IgD) multiple myeloma is a rare entity, accounting for 1 to 2% of myelomas, characterized by aggressive progression and frequent renal involvement. Its diagnosis is often delayed due to the low serum concentration of IgD a...
[Alpha-thalassemia with Hb G-Philadelphia incidentally discovered during HbA1c testing] [0.03%]
[HbG-费城偶然发现的α海洋性贫血病例]
Sophia Kahouli,Azlarab Masrar,Souad Benkirane et al.
Sophia Kahouli et al.
Hemoglobin G-Philadelphia is an alpha-globin chain variant resulting from the substitution of asparagine by lysine at position 68 [α68(E17) Asn→Lys]. This hemoglobin (Hb) variant is generally clinically silent; however, its identification...
Paul Houeto,Ahlam El Amri,Bertrand Cinquin et al.
Paul Houeto et al.
Organs-on-a-Chip (OoC) are innovative models designed to reproduce an architecture close to in vivo physiology, by recreating the specific microenvironment of each organ. They represent a promising advance in the process of developing new d...
A morphology-driven proof-of-concept study linking interphase nuclear abnormalities to dicentric-mediated genomic instability [0.03%]
基于形态学的验证研究：间期细胞核异常与acentric-mediated基因组不稳定之间的联系
Radu Chiriac,Auriane Salotti,Béatrice Grange et al.
Radu Chiriac et al.
Genomic instability is a major driver of clinical heterogeneity and treatment resistance in B-cell malignancies. In chronic lymphocytic leukemia (CLL) complex karyotype (CK) and disruption of the TP53 pathway are key markers of poor prognos...
Analytical validation and clinical concordance of Diazyme free light chain assays on the Cobas® platform compared with Freelite™ [0.03%]
迪瑞公司轻链免疫固定电泳校准品在罗氏Cobas c 501平台上的分析验证及与Freelite检测的临床一致性评估
Wafa Masri,Wajed Abarah,Mustapha Taileb et al.
Wafa Masri et al.
Serum free light chains (FLC) are key biomarkers for the diagnosis and monitoring of plasma cell dyscrasias. Current International Myeloma Working Group (IMWG) recommendations are based on Freelite™ assays. This study aimed to evaluate the...
Small-cell secondary plasma cell leukemia mimicking low-grade B-cell lymphoma [0.03%]
小细胞二次性浆细胞白血病类似低度恶性B淋巴瘤
Radu Chiriac,Manon Leparc,Lucile Baseggio
Radu Chiriac
[Multiple myeloma and analytical discrepancy in serum free light chain assay: a case report] [0.03%]
[Multiple Myeloma伴血清游离轻链检测分析差异1例报告]
Mariam Hachimi Idrissi,Mohammed Tarbi,Othmane Ameur et al.
Mariam Hachimi Idrissi et al.
In multiple myeloma, the measurement of serum free light chains (sFLC) is an essential biomarker for establishing the diagnosis, assessing the risk of disease progression and monitoring treatment response. However, analytical techniques are...
[Summary of the 34th National Conference of the National College of Hospital Biochemistry] [0.03%]
[第34届全国医院生物化学学术会议概要]
Magali Annette-Reisch,Anaëlle Bain,Juliette Chauvet et al.
Magali Annette-Reisch et al.