Latest Research in Hemoglobinopathies and Related Disorders
25 research papers · 2026 median publication year
Top Research Topics in Hemoglobinopathies and Related Disorders
- Hemoglobinopathies and Related Disorders — 3 papers
- Genomics and Rare Diseases — 2 papers
- Gout, Hyperuricemia, Uric Acid — 2 papers
- Thyroid and Parathyroid Surgery — 2 papers
- Cholesterol and Lipid Metabolism — 2 papers
- Kidney Stones and Urolithiasis Treatments — 2 papers
- Parathyroid Disorders and Treatments — 2 papers
- Metabolism and Genetic Disorders — 1 papers
- Mitochondrial Function and Pathology — 1 papers
- Liver Disease Diagnosis and Treatment — 1 papers
Highest-Cited Papers
- CRISPR-Based Mediated Reactivation of Fetal Hemoglobin as a Therapeutic Strategy for Hemoglobinopathies: Evidence from Preclinical to Clinical Trials in Sickle Cell Disease and β-Thalassemia
- Zebras in Plain Sight: Rare Disease Knowledge and Awareness Among Pediatric and Family Medicine Resident Physicians
- Rare diseases in Brazil: a nationwide analysis of the diagnostic odyssey
- Beyond the Prevention of Anti-drug Antibody Formation with Uricase Therapy: Mechanistic Roles of DMARDs in Modifying Gout Flare Risk
- Beyond Primary Epilepsy: Fahr's Syndrome Secondary to Congenital Parathyroid Agenesis Presenting With Generalised Seizures in a Young Adult
- Normal cholestanol in a genetically confirmed cerebrotendious xanthomatosis case presenting as neonatal jaundice
- Hyperkinetic Movements in an Infant with Citrullinemia Type 1
- Neutrophil Fate and Function in Gout: From Sterile Inflammation to Resolution
- Mitochondrial Damage in Hemoglobinopathies: The Role of Cell-Free mtDNA as a Potential Biomarker
- Sex Difference in the Impact of Steatotic Liver Disease on Incident Hepatocellular Carcinoma in Patients with Chronic Hepatitis B
- Precision Medicine in Pediatric Nephrology: From Shared Clinical Phenotypes to Genotype-Guided Diagnosis and Management
- Plasma growth differentiation factor 15 levels are more strongly associated with host physiological status than with tumor progression in colorectal cancer
- Preclinical evaluation of entecavir as a fetal hemoglobin inducer using in vitro, in vivo, network pharmacology, and molecular docking approaches
- Digenic disease causing variants in a patient with severe nephrocalcinosis
- Renal and Systemic Complications in Autosomal Dominant Hypocalcaemia Type 1: A Case Series from North East England
- Sitosterolemia in pregnancy: A rare lipid disorder and its obstetric management
- A case report of WT1-associated infantile steroid-resistant nephrotic syndrome with atypical genotype–phenotype correlation
- UMOD gene variants in autosomal dominant tubulointerstitial kidney disease: first cases reported from Türkiye
- Genome-wide association study of restless legs syndrome in end-stage renal disease
- Beyond cirrhosis: Major adverse liver outcomes across homozygous and heterozygous Alpha-1 antitrypsin deficiency associated liver disease