Triosephosphate isomerase deficiency with elevated sweat chloride test: report of a case.

@article{Yenicesu2000TriosephosphateID,
  title={Triosephosphate isomerase deficiency with elevated sweat chloride test: report of a case.},
  author={Idil Caglar Yenicesu and Omer Kalayci and Evren Semizel and Umut S Kavak and Fatma G{\"u}mr{\"u}k and Claude F{\'e}rec and Ernest Beutler},
  journal={The Turkish journal of pediatrics},
  year={2000},
  volume={42 4},
  pages={319-21}
}
A 15-month-old girl with severe hemolytic anemia and progressive respiratory failure is presented. She was well until the age of six months when she developed a pulmonary infection. During the next six months, she had frequent respiratory infections and her paleness became evident. At the age of 12 months, she was observed to have easy fatigability and… CONTINUE READING