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Hurler’s and PseudoHurler’s Syndrome in a Consanguine Family


Authors: E. Seemanová
Authors‘ workplace: Oddělení klinické genetiky Ústavu biologie a lékařské genetiky 2. LF UK, Praha, vedoucí MUDr. M. Havlovicová
Published in: Čes-slov Pediat 2002; (11): 628-630.
Category:

Overview

The occurrence of mucopolysaccharidosis type I. Hurler and generalized gangliosidosis GM1, two rareautosomal recessive inborn errors of metabolism with similar phenotypical features in one highly inbred familyemphasize the importance of etiological diagnosis for the evaluation of genetic prognosis and exact geneticprevention.

Key words:
highly inbred population, autosomal recessive inborn errors of metabolism,mucopolysaccharidosistype I Hurler and generalized gangliosidosis GM1 - pseudoHurler in one family

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Labels
Neonatology Paediatrics General practitioner for children and adolescents
Topics Journals
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