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Browsing by Author "Khoury, Muin J."

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Browsing by Author "Khoury, Muin J."

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  • Familial spinocerebellar degeneration with corneal dystrophy 
    Deeb, Mary E.; Der Kaloustian, Vazken M.; Jarudi, Nabil I.; Khoury, Muin J.; Afifi, Adel K.; Bahuth, Nadia B.; Shammas, John; Mikati, Mohamad A.; Opitz, John M.; Reynolds, James F. (2016-11-23)
    We report on two sisters born to normal but consanguineous parents, with the unusual combination of spinocerebellar degeneration and corneal dystrophy. Their manifestations include mental subnormality, bilateral corneal ...
  • Sandhoff Disease 
    Deeb, Mary E.; Der Kaloustian, Vazken M.; Khoury, Muin J.; Hallal, Ruwayda; Idriss, Ziad H.; Wakid, Nabil W.; Haddad, Fuad S. (2016-11-18)
    All cases clinically diagnosed as Tay-Sachs disease at the American University Hospital, Beirut, during a period of 22 years (1957--1979) were reviewed. Of a total of 15 cases, seven had serum hexosaminidase tested and ...