Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis

Lignende værker

• Biochemical characteristics of a Korean patient with mucolipidosis III (pseudo-Hurler polydystrophy).
  af: Song, Junghan, et al.
  Udgivet: (2003)
• Clinical, biochemical, and genetic analysis of two Korean patients with Trichorhinophalangeal syndrome type I and growth hormone deficiency
  af: Sohn, Young Bae, et al.
  Udgivet: (2013)
• The First Korean Case of Mucopolysaccharidosis IIIC (Sanfilippo Syndrome Type C) Confirmed by Biochemical and Molecular Investigation
  af: Huh, Hee Jae, et al.
  Udgivet: (2013)
• CYP21A2 Mutation Analysis in Korean Patients With Congenital Adrenal Hyperplasia Using Complementary Methods: Sequencing After Long-Range PCR and Restriction Fragment Length Polymorphism Analysis With Multiple Ligation-Dependent Probe Amplification Assay
  af: Hong, Geehay, et al.
  Udgivet: (2015)
• PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations
  af: Choi, Rihwa, et al.
  Udgivet: (2016)