3 results match your criteria: "National Taiwan University Children's Hospital Taipei[Affiliation]"
A missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndrome.
NPJ Genom Med
October 2022
Department of Microbiology, College of Medicine, National Taiwan University, Taipei, Taiwan.
Hoyeraal-Hreidarsson syndrome (HHS) is the most severe form of dyskeratosis congenita (DC) and is caused by mutations in genes involved in telomere maintenance. Here, we identified male siblings from a family with HHS carrying a hemizygous mutation (c.1345C > G, p.
View Article and Find Full Text PDFSeizure remission and improvement of neurological function in sialidosis with perampanel therapy.
Epilepsy Behav Case Rep
March 2018
Department of Pediatric Neurology, National Taiwan University Children's Hospital Taipei, Taiwan.
A 15-year-old boy experienced myoclonic seizures for 3 years. He initially had occasional myoclonus, gradually progressive ataxia, tremors, and psychomotor and speech regression developed. Eventually, he exhibited nearly continuous myoclonus.
View Article and Find Full Text PDFDiscoid Skin Rash in a Preterm Infant.
J Pediatr
April 2017
Department of Pediatrics National Taiwan University Hospital, Hsin-Chu Branch Hsin-Chu, Taiwan.