Results 91 to 100 of about 2,289,814 (238)
Drug-induced metabolic acidosis [PDF]
, 2017 Summary: Drug causes of metabolic acidosis are numerous and their mechanisms are diverse. Broadly, they can cause metabolic acidosis with either a normal anion gap (e.g. drug-induced renal tubular acidosis) or an elevated anion gap (e.g.
Boton +33 more
core +1 more source
Pediatric Blood &Cancer, Volume 73, Issue 2, February 2026.ABSTRACT Purpose Infants with cancer are rare and face unique challenges. Our study aims to describe the incidence of infantile cancers in Canada and to compare treatment‐related mortality (TRM) and their outcomes with those of older children. Methods We conducted a retrospective cohort study using the Cancer in Young People in Canada database ...
Samuel Sassine +22 more
wiley +1 more source
Haematologica, 2010 Background Inherited bone marrow failure syndromes are rare genetic disorders characterized by bone marrow failure, congenital anomalies, and cancer predisposition.
Hannah Tamary +20 more
doaj +1 more source
DNA Methylation Episignature as a Novel Diagnostic Tool for Diamond‐Blackfan Anemia Syndrome
American Journal of Hematology, Volume 101, Issue 2, Page 228-241, February 2026.Diamond‐Blackfan Anemia Syndrome (DBAS) is a congenital bone marrow failure disorder characterized by defective erythropoiesis and a spectrum of congenital anomalies, including craniofacial malformations, limb abnormalities, and cardiac and renal defects.
Paola Quarello +29 more
wiley +1 more source
Adefovir-induced Fanconi syndrome associated with osteomalacia.
Clinical and Molecular Hepatology, 2017 Fanconi syndrome is a dysfunction of the proximal renal tubules that results in impaired reabsorption and increased urinary loss of phosphate and other solutes. The pathophysiology of drug-induced Fanconi syndrome is unclear. Here we report the case of a
Samel Park +10 more
semanticscholar +1 more source
A Novel Human Cellular System for Studying Normal Aging and for Anti‐Aging Discovery
Aging Cell, Volume 25, Issue 2, February 2026.This study introduces a human cellular aging model using placental trophoblasts (hTSC‐STBs) that mimics key aging features like senescence and genomic instability. It aligns with human tissue aging and responds to anti‐aging treatments, offering a scalable platform to screen potential therapies and bridge lab findings to clinical applications ...
Zhen Feng +14 more
wiley +1 more source
Acute metabolic acidosis in a GLUT2-deficient patient with Fanconi-Bickel syndrome: new pathophysiology insights [PDF]
, 2017 Fanconi-Bickel syndrome is a rare autosomal-recessive disorder caused by mutations in the SLC2A2 gene coding for the glucose transporter protein 2 (GLUT2).
Bensman, Albert +9 more
core
Aging Cell, Volume 25, Issue 2, February 2026.Using in vitro DNA damage assays in human T cells, ex vivo profiling of aged immune subsets and a small placebo‐controlled in vivo study, authors show that low‐dose rapamycin, a potent life‐extending mTOR inhibitor, enhances resilience against DNA damage in the human immune system.
Loren Kell +8 more
wiley +1 more source
Fanconi-BRCA pathway mutations in childhood T-cell acute lymphoblastic leukemia [PDF]
, 2019 BRCA2 (also known as FANCD1) is a core component of the Fanconi pathway and suppresses transformation of immature T-cells in mice. However, the contribution of Fanconi-BRCA pathway deficiency to human T-cell acute lymphoblastic leukemia (T-ALL) remains ...
Burns, Melissa A +21 more
core +3 more sources
Clinical Genetics, Volume 109, Issue 2, Page 266-276, February 2026.In 325 exomes of South Brazilian Mennonites, we identified 23 pathogenic variants (P) and 27 likely P, with founder effects identified for 96% of P, whose frequencies differed from non‐Finnish Europeans, Amish, and Brazilian populations. ABSTRACT The Mennonite population has a unique history of 500 years of genetic isolation shaped by at least three ...
Luiza Beatriz Mayer de Lima +8 more
wiley +1 more source