Broad clinical spectrum and diverse outcomes of prolactinoma with pediatric onset: medication-resistant and recurrent cases

High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing

Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene

Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey Underdiagnosis of late-onset phenotype

Case report of unexpected gastrointestinal involvement in type 1 Gaucher disease: comparison of eliglustat tartrate treatment and enzyme replacement therapy

Disseminated BCG pneumonitis revealing severe combined immunodeficiencyxs in CHARGE syndrome

Congenital MTHFR deficiency causing early-onset cerebral stroke in a case homozygous for MTHFR thermolabile variant

Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome

Comparative proteomic analysis in children with idiopathic short stature (ISS) before and after short-term recombinant human growth hormone (rhGH) therapy

High prevalence of neonatal presentation in Korean patients with citrullinemia type 1, and their shared mutations