Latest Research in Metabolism and Genetic Disorders

Top Research Topics in Metabolism and Genetic Disorders

• Liver Disease Diagnosis and Treatment — 8 papers
• Metabolism and Genetic Disorders — 5 papers
• Lysosomal Storage Disorders Research — 1 papers
• Moringa oleifera research and applications — 1 papers
• Dietary Effects on Health — 1 papers
• Alcohol Consumption and Health Effects — 1 papers
• Pituitary Gland Disorders and Treatments — 1 papers
• Biomedical Research and Pathophysiology — 1 papers
• Sulfur Compounds in Biology — 1 papers
• Diabetes Treatment and Management — 1 papers

Highest-Cited Papers

1. Clinical outcome assessments in Pompe disease: a pragmatic review of their validity, concept coverage, and value in clinical practice and clinical research
2. Safety and Efficacy of Moringa oleifera Lam Supplementation in Patients with Metabolic Dysfunction-associated Steatotic Liver Disease: A Prospective Real-world Study from Bangladesh
3. Dried Blood Spot-Based Monitoring of Dietary Treatment in Children, Adolescents, and Young Adults with Inherited Disorders of Amino Acid Metabolism: A Four-Year Pilot Study
4. Ramadan Fasting in Metabolic Dysfunction-Associated Steatotic Liver Disease: Linking the Gut–Mitophagy–Circadian Axis to Endothelial Dysfunction and Hepatic Outcomes
5. Hepatic steatosis: A pandemic disease causing serious secondary diseases
6. Exercise as a Multisystem Adjunct for Alcohol-Associated Liver Disease: Inflammatory Mechanisms, Muscle–Liver Crosstalk, and Translational Gaps
7. Diagnostic Yield of Brain MRI in Pediatric Short Stature: Hypothalamic–Pituitary Lesions and Incidental Findings in Real‐World Practice
8. Keyora Antarctic Krill Oil EP-11: The MASLD Multi-Layer Response Map: From Hepatic Steatosis and TG-VLDL Dyslipidemia to MASH, Fibrosis-Risk Stratification, and Clinical Escalation
9. Lethal Transaldolase Deficiency Mimicking Gestational Alloimmune Liver Disease: Prenatal Sonography and Identification of a Novel TALDO1 Variant
10. Keyora Antarctic Krill Oil EP-11: The MASLD Multi-Layer Response Map: From Hepatic Steatosis and TG-VLDL Dyslipidemia to MASH, Fibrosis-Risk Stratification, and Clinical Escalation
11. Gamma-Glutamyl Transferase at the Crossroads of Cardiometabolic Disease and Metabolic Dysfunction–Associated Steatotic Liver Disease
12. Glycemic and bodyweight effects of GIPR coding variation reflect differences in surface expression and intrinsic functional impairment
13. Progress and Prospects of Newborn Screening in China
14. End of an Era, or Just Another Inflection Point in the History of Newborn Screening in the United States?
15. From Molecular Mechanisms to Clinical Strategies: A Comprehensive Overview of Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD)
16. MASLD and MASH: Steatotic liver disease joins the deadly quartet
17. Upcoming therapies for steatotic liver disease: Translating breakthroughs into clinical practice
18. A new era in the treatment of metabolic dysfunction-associated steatotic liver disease (MASLD): clinical breakthroughs and challenges
19. Blood Neurofilament Light Chain as a Biomarker of Central Network Dysregulation in Methamphetamine Use Disorder: A Multi‐Modal Investigation with Clinical Implications
20. Profile of individuals with full-scale intelligence quotient (FSIQ) scores in the National Spina Bifida Patient Registry (NSBPR)