Results 211 to 220 of about 52,382 (294)

Shifting Towards Empagliflozin First‐Line Therapy in Glycogen Storage Disease Type Ib: A Nationwide Real‐World Study

open access: yesJournal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Neutrophil dysfunction and neutropenia are burdensome findings in glycogen storage disease type Ib (GSDIb). Treatment with granulocyte‐colony stimulating factor (G‐CSF) often corrects neutropenia but fails to improve clinical symptoms like inflammatory bowel disease (IBD).
Sema Kalkan Uçar   +32 more
wiley   +1 more source

Advances and challenges in the treatment of myelodysplastic syndromes. [PDF]

open access: yesExp Hematol Oncol
Thalla R   +4 more
europepmc   +1 more source

Peripheral versus Marrow Lipidomics in Patients with Severe Aplastic Anemia: Potential Indicators for Early Immunosuppressive Treatment Response

open access: yesLipids, Volume 61, Issue 3, Page 347-361, May 2026.
ABSTRACT This study aimed to explore the differences of peripheral blood (PB) and bone marrow serum lipidomic profiles in severe aplastic anemia (SAA) patients and their significance in predicting earlier immunosuppressive therapy (IST) response. A cohort of 11 newly diagnosed SAA patients and 15 healthy controls were enrolled between June 2020 and ...
Zexing Sun   +11 more
wiley   +1 more source

Magnetic Resonance Imaging as a Complementary Diagnostic Tool for Aplastic Anemia

open access: yes
American Journal of Hematology, Volume 101, Issue 5, Page 1074-1076, May 2026.
Jeanette Walter   +6 more
wiley   +1 more source

Isocitrate Dehydrogenase Mutations in Cancer: From Bench to Bedside Applications

open access: yesMedComm, Volume 7, Issue 5, May 2026.
Mutant isocitrate dehydrogenase affects multiple cancer types. Alterations in IDH1 and IDH2 result in abnormal enzyme activity, leading to the overproduction of D‐2‐hydroxyglutarate (D‐2HG). This metabolite disrupts cellular metabolism and epigenetic regulation, driving cancer initiation, progression, and metastasis.
Yuhan Fang   +6 more
wiley   +1 more source

Homozygous Pathogenic Variant in Elongation Factor‐Like 1 (EFL1) as a Causal Factor in Shwachman‐Diamond Syndrome 2 in a Palestinian Child, With Distinct Ocular Manifestations

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
We report a Palestinian female infant with a homozygous pathogenic EFL1 variant (c.3284G>A; p.Arg1095Gln) causing Shwachman–Diamond syndrome type 2 (SDS2). Beyond the classical features of pancytopenia, exocrine pancreatic insufficiency, and growth failure, the patient showed previously unreported ocular manifestations—stage 2–3 retinopathy of ...
Ibrahim Taha   +13 more
wiley   +1 more source

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