University of Connecticut Pediatric Endocrinology

Topics

• Genetic Syndromes and Imprinting 26
• Parathyroid Disorders and Treatments 9
• Connective tissue disorders research 7
• Sexual Differentiation and Disorders 6
• Muscle Physiology and Disorders 5
• Neonatal Respiratory Health Research 5
• Bone Metabolism and Diseases 4
• Cystic Fibrosis Research Advances 4
• Electrolyte and hormonal disorders 4
• Glycogen Storage Diseases and Myoclonus 4
• Pancreatic function and diabetes 4
• Adrenal and Paraganglionic Tumors 3

Most cited

1. Safety and Efficacy of DTX401, an AAV8-Mediated Liver-Directed Gene Therapy, in Adults With Glycogen Storage Disease Type I a (GSDIa).

   Journal of inherited metabolic disease · 2025 · 22 citations · Rebecca Riba-Wolman

2. Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs.

   Nutrients · 2021 · 55 citations · Rebecca Riba-Wolman

3. Setmelanotide: a promising advancement for pediatric patients with rare forms of genetic obesity.

   Current opinion in endocrinology, diabetes, and obesity · 2023 · 34 citations · Christine Trapp

4. Obesity and Adipose Tissue Dysfunction: From Pediatrics to Adults.

   Genes · 2022 · 39 citations · Ana Menendez

5. Medical Management of Hypophosphatasia: Review of Data on Asfotase Alfa.

   Current osteoporosis reports · 2025 · 10 citations · Nancy Dunbar

6. Deletion of Gdf15 Reduces ER Stress-induced Beta-cell Apoptosis and Diabetes.

   Endocrinology · 2022 · 27 citations · Emily Germain-Lee

7. Brief Report: Decreased Bone Health in Children with Autism Spectrum Disorder and Avoidant Restrictive Food Intake Disorder.