Long-term Clinical Consequences in Patients with Urea Cycle Disorders in Korea: A Single-center Experience

Single random measurement of urinary gonadotropin concentration for screening and monitoring girls with central precocious puberty

Pancreatic involvement in patients with inborn errors of metabolism

Leri-Weill dyschondrosteosis in a newborn presenting with respiratory failure due to severe micrognathia

First Case of Peroxisomal D-bifunctional Protein Deficiency with Novel HSD17B4 Mutations and Progressive Neuropathy in Korea

The Effect of Combined Growth Hormone and a Gonadotropin-Releasing Hormone Agonist Therapy on Height in Korean 3-M Syndrome Siblings

Improving the lives of children with neurofibromatosis type 1

Fatal outcome of autosomal recessive polycystic kidney disease in neonates with recessive PKHD1 mutations

Successful rapid weight reduction and the use of liraglutide for morbid obesity in adolescent Prader-Willi syndrome

Comparison of effectiveness of growth hormone therapy according to disease-causing genes in children with Noonan syndrome