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Browsing by Author "Dudin, Gertrud"

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Browsing by Author "Dudin, Gertrud"

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  • Clinical and biochemical characteristics of prolidase deficiency in siblings 
    Deeb, Mary; Freij, Bishara J.; Levy, Harvey L.; Dudin, Gertrud; Mutasim, Diya'; Der Kaloustian, Vazken M. (2016-11-18)
    Two brothers with recurrent skin ulcers of the lower limbs, subnormal intelligence, developmental abnormalities, and poliosis were found to excrete large quantities of several imidodipeptides in their urine. Glycylproline ...
  • Interstitial deletion of band q12 of chromosome 5 
    Deeb, Mary; Dudin, Gertrud; Alexander, Denis; Talj, Fayrouz; Musallam, Salim; Der Kaloustian, Vazken M. (2016-11-23)
    A six-months-old girl is presented with psychomotor retardation and multiple congenital malformations. The karyotype done on peripheral blood lymphocytes and skin fibroblasts was found to be 46,XX del(5)(411q13). The parents ...