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Last Updated: 01/07/2026
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Found 1251 publications
Author Correction: Ret finger protein deficiency attenuates adipogenesis in male mice with high fat diet-induced obesity.
Journal: Experimental & molecular medicine
Published: October 05, 2025
From Neonatal Encephalopathy to Adult Survival: Revisiting the Natural History of D-Bifunctional Protein Deficiency in a Multicentre International Case Series.
Journal: Journal of inherited metabolic disease
Published: September 24, 2025
Multiple Organ Involvement in a Boy with Lipopolysaccharide-Responsive Beige-like Anchor Protein Deficiency Detected by F-18 Fluorodeoxyglucose Positron Emission Tomography/Computed Tomography.
Journal: Pediatric allergy, immunology, and pulmonology
Published: August 18, 2025
Adipose microsomal triglyceride transfer protein deficiency protects against hepatic steatosis by upregulating PPARα activity.
Journal: JHEP reports : innovation in hepatology
Published: June 17, 2025
Effect of pemafibrate on high-density lipoprotein cholesterol levels and subspecies in a patient with cholesteryl ester transfer protein deficiency: A case report with mechanistic insights.
Journal: Journal of clinical lipidology
Published: June 12, 2025
Correction to: Neonatal Onset Seizures and Hypotonia Due to D-Bifunctional Protein Deficiency.
Journal: Indian journal of pediatrics
Published: June 07, 2025
Cholesteryl Ester Transfer Protein Deficiency and Hyperalphalipoproteinemia.
Journal: Journal of atherosclerosis and thrombosis
Published: May 28, 2025
Case Report: D-bifunctional protein deficiency caused by novel compound heterozygote HSD17B4 variants in a neonate in China.
Journal: Frontiers in genetics
Published: May 20, 2025
Epstein-Barr virus infection plays a crucial role in triggering hemophagocytic lymphohistiocytosis in patients with X-linked inhibitor of apoptosis protein deficiency.
Journal: Hematology (Amsterdam, Netherlands)
Published: May 13, 2025
Mitochondrial Trifunctional Protein Deficiency due to HADHA Variants Masquerading as Charcot-Marie-Tooth Disease.
Journal: Journal of the peripheral nervous system : JPNS
Published: May 11, 2025
Translocator protein deficiency blocks the ferroptosis of malignant peripheral nerve sheath tumors through glutathione peroxidase 4.
Journal: Frontiers in cellular neuroscience
Published: May 09, 2025
Last Updated: 01/07/2026