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  • Hong-Zhi Gao, Keiko Kobayashi, +33 authors Takeyori Saheki
  • Biology, Medicine
  • Human mutation
  • 2003 (First Publication: 1 July 2003)
  • Classical citrullinemia (CTLN1), a rare autosomal recessive disorder, is caused by mutations of the argininosuccinate synthetase (ASS) gene, localized on chromosome 9q34.1. ASS functions as aExpand
  • Burhanettin Gönüldaş, Taner Yılmaz, +5 authors Turgay Çoskun
  • Medicine
  • International journal of pediatric…
  • 2014 (First Publication: 1 June 2014)
  • OBJECTIVE The aim of this study is to evaluate otolaryngologic problems (upper airway obstruction, obstructive sleep apnea, restriction of mouth opening, middle ear effusion, hearing and breathingExpand
  • Sylvia G. Stockler-Ipsiroglu, Clara D M van Karnebeek, +29 authors Andreas Schulze
  • Medicine, Biology
  • Molecular genetics and metabolism
  • 2014
  • We collected data on 48 patients from 38 families with guanidinoacetate methyltransferase (GAMT) deficiency. Global developmental delay/intellectual disability (DD/ID) with speech/language delay andExpand