ISSN  0006-9248

Bratisl  Lek  Listy

Published continuously since 1921

 

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Volume 105 

  

Issue  9       ( Bratisl  Lek  Listy 2004; 105 (9) )


9th  ASIAN-EUROPEAN  WORKSHOP OF INBORN ERRORS OF METABOLISM


September 26 - October 1, 2004,  Stará Lesná, Slovakia



  Program    ( PDF, 245 kB )

Maternal hyperphenylalaninemias in healthy Czech population of pregnant women:
  30 years experience with screening, prevention and treatment

  Hyanek J, Kozak L, Hrabincova E, Trnka V, Kobilkova J, Dolezal A, Soukup K, Zeman J,
  Stastna S, Vadurova L, Krijt J, Viletova H, Cervena M, Paterova T

- A case of Rett syndrome from Ukraine – clinical diagnosis confirmed by mutation analysis
  of the MECP2 gene

  Bzduch V, Zahorakova D, Grechanina E, Zdibskaja EP, Goldfarb IG

- Diagnosis and management of galactosemia: An Egyptian experience
  Fateen E, El Shafei S, El Karaksy H, Mahmoud M, Roshdy S, El Tem­tamy S, Shin Y

- Prenatal diagnosis of mucopolysaccharidoses (MPS): The first egyptian experience
  Nasr AA, Fateen E

- Molecular and biochemical basis for variants and deficiency of GALT: report of 4 novel mutations
  Shin YS, Podskarbi T

 

  Abstracts of 9th AEWIEM  

  Index of the authors