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
Labels
Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
2002 Issue 11
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