Results 161 to 170 of about 26,590 (287)

Single-cell transcriptomics reveals heterocellular γ-globin gene expression in Aγδβ-thalassemia. [PDF]

Blood Adv
Doerfler PA, Li Y, Yao Y, Feng R, Mayuranathan T, Zhang J, Kooienga E, Cullins DL, Jesudas R, Williams DC, Hankins JS, Cheng Y, Wood DK, Weiss MJ.   +13 more
europepmc   +1 more source

H Syndrome Associated With Pure Red Cell Aplasia, Rosai–Dorfman Disease, and Sensorineural Hearing Loss: Phenotypic Variability in Three Children With the Same SLC29A3 Mutation

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT H syndrome is a rare autosomal recessive disorder caused by mutations in the SLC29A3 gene. We report three pediatric patients with a homozygous c.1309G>A (p.Gly437Arg) mutation presenting with distinct phenotypic variations. These cases expand the clinical spectrum and emphasize the importance of early genetic diagnosis and family counseling.
Mohammad Najajrah, Hadeel I. Bouzia, Nermin K. Darawi, Fatima S. Hajjaj, Nour H. Moosa, Noor M. Awad   +5 more
wiley   +1 more source

Beyond Terminal Blockade: A Mechanism-Based Approach to Complement Inhibitor Selection in Paroxysmal Nocturnal Hemoglobinuria. [PDF]

Drug Des Devel Ther
Chen C, Zhong J, Xiong D.
europepmc   +1 more source

Favorable Response to Immunosuppressive Therapy in Severe Aplastic Anemia With Trisomy 8 and BCOR Mutation: Sustained Hematologic Response Despite Evolving Mutational Profile—A Case Report

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Severe aplastic anemia (SAA) is a serious medical condition that is characterized by its abrupt onset, rapid progression of the disease, and alarmingly high mortality rate, making it a significant concern in the field of hematology. Intensive immunosuppressive therapy (IST) is one of the primary therapeutic options; however, some SAA patients ...
Mengzhu Shen, Yan Wei, Bo Shao, Cao Qin, Xiaofei Jia, Hao Jiang, Jinsong Jia   +6 more
wiley   +1 more source

Autoimmune Hemolytic Anemia Following Intravenous Immunoglobulin in Kawasaki Disease. [PDF]

Cureus
Pastrana Echevarria I, García J, Henriquez GM, Condor Y, Velazquez V.   +4 more
europepmc   +1 more source

Sickle Cell Disease and Kidney Injury: Circulating Uromodulin Allows Early Tissue Specific Diagnosis and Monitoring of Treatment

American Journal of Hematology, Volume 101, Issue 9, Page 2430-2434, September 2026.
Ferras Alashkar, Robert Hable, Denise Zwanziger, Friederike Poppenborg, Raina Yamamoto, Hans Christian Reinhardt, Alexander Röth, Victor Herbst, Yara Bestmann, Marco Kai, Jürgen E. Scherberich   +10 more
wiley   +1 more source

Diagnostic Challenge of Pediatric Gaucher Disease in a Low‐Resource South Asian Setting: A Case Report

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Gaucher disease is a rare autosomal recessive lysosomal storage disorder that is caused by a deficiency of the enzyme “β‐glucocerebrosidase”, leading to the accumulation of glucocerebroside within macrophages. It commonly presents with hepatosplenomegaly, cytopenias, and bone marrow infiltration.
Muhammad Waqas, Rahila Bano, Muhammad Usman Haider, Kumar Abhishek, Arshad Mehmood, Aqeel Abbas, Abbas Ali, Talha Basheer, Rafiya Muhammad Altaf, Yahya Samadi   +9 more
wiley   +1 more source

One cell at a time: HbF distribution in sickle cell disease. [PDF]

Blood Adv
Khandros E, Steinberg MH.
europepmc   +1 more source

Hypoparathyroidism and Avascular Necrosis of the Hip Joint: A Case Report

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT A 30‐year‐old man presented with left hip pain and was diagnosed with femoral head avascular necrosis associated with idiopathic hypoparathyroidism, hypocalcemia, and vitamin D deficiency. Treatment with calcium, calcitriol, analgesia, and physiotherapy improved symptoms. This case suggests hypoparathyroidism may play a role in the development
Munirah Altaissan, Amani A. Al‐Rajhi, Fahmi Yousef Khan   +2 more
wiley   +1 more source

Bioinformatics Analysis of <i>Cereus</i>-Derived Peptides Targeting β‑Lactamases and Bilayer Membrane from <i>Klebsiella pneumoniae</i> and <i>Acinetobacter baumannii</i>. [PDF]

ACS Omega
Teodoro JA, Cardoso MIO, Virgens GS, Amaral DT.   +3 more
europepmc   +1 more source