A neonate with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome from a consanguineous Pakistani family

Diagnostic Odyssey and Application of Targeted Exome Sequencing in the Investigation of Recurrent Infant Deaths in a Syrian Consanguineous Family: a Case of Spinal Muscular Atrophy with Respiratory Distress Type 1

A Rare Cause of Life-Threatening Ketoacidosis: Novel Compound Heterozygous OXCT1 Mutations Causing Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency

Genetic overgrowth syndrome: A single center’s experience

Identification of a novel heterozygous mutation of ACAN in a Korean family with proportionate short stature

Treatable massive pericardial effusion and hypertrophic cardiomyopathy in an infant with a novel homozygous ACADVL mutation

The first Korean case of combined oxidative phosphorylation deficiency-17 diagnosed by clinical and molecular investigation

A rare case of multiple pituitary adenomas in an adolescent Cushing disease presenting as a vertebral compression fracture

Chronic intermittent form of isovaleric aciduria in a 2-year-old boy

Turner syndrome with primary hyperparathyroidism