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  • Majid Alfadhel, Mohammed Benmeakel, +6 authors Wafaa M Eyaid
  • Biology, Medicine
  • Orphanet Journal of Rare Diseases
  • 2016 (First Published: 1 December 2016)
  • BackgroundInborn errors of metabolism (IEMs) are individually rare; however, they are collectively common. More than 600 human diseases caused by inborn errors of metabolism are now recognized, andContinue Reading
  • Mohammad Arif Hossain, Hiroko Yanagisawa, +10 authors Yoshikatsu Eto
  • Biology, Medicine
  • Molecular genetics and metabolism
  • 2017 (First Published: 1 March 2017)
  • Heterozygous Fabry females usually have an attenuated form of Fabry disease, causing them to be symptomatic; however, in rare cases, they can present with a severe phenotype. In this study, we reportContinue Reading
  • Hiroko Yanagisawa, Mohammad Arif Hossain, Takashi Miyajima, Kazuaki Nagao, Toshiyuki Miyashita, Yoshikatsu Eto
  • Biology, Medicine
  • Molecular genetics and metabolism
  • 2019 (First Published: 1 April 2019)
  • Lysosomes are an essential organ for cellular metabolism and play an important role in autophagy. We examined the association between methylation and autophagy in a severely affected female patientContinue Reading