Neurometabolic diseases at a national referral center: five years experience at the King Faisal Specialist Hospital and Research Centre.

@article{Ozand1992NeurometabolicDA,
  title={Neurometabolic diseases at a national referral center: five years experience at the King Faisal Specialist Hospital and Research Centre.},
  author={Pinar T. Ozand and Edward B Devol and Generoso G. Gascon},
  journal={Journal of child neurology},
  year={1992},
  volume={7 Suppl},
  pages={
          S4-11
        }
}
Of 910 children under the age of 12 years referred to the national center, we were able to assign an etiology to 473 (52%). This group consisted of lysosomal storage diseases (32%), amino acid disorders (14%), organic acid disorders (16%), various chromosome abnormalities and syndromes with dysmorphia or brain dysgenesis (26%), and various other metabolic diseases (12%). While such amino acidemias as branched-chain amino acidemia (MSUD) in classic and intermediate forms (44%) and… CONTINUE READING
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