Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients.

@article{Boer2002Longchain3D,
  title={Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients.},
  author={Margarethe E J den Boer and Ronald J. A. Wanders and Andrew M A Morris and Lodewijk van Ijlst and Hugo S. A. Heymans and Frits A. Wijburg},
  journal={Pediatrics},
  year={2002},
  volume={109 1},
  pages={
          99-104
        }
}
OBJECTIVES To assess the mode of presentation, biochemical abnormalities, clinical course, and effects of therapy in patients of long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. BACKGROUND LCHAD deficiency is a rare, autosomal recessive inborn error of fatty acid oxidation. Although case reports and small series of patients have been published, these may not give a true picture of the clinical and biochemical spectrum associated with this disorder. To improve the early… CONTINUE READING
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