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Investigation of enzyme defects in children with lactic acidosis

✍ Scribed by B. Merinero; C. Pérez-Cerda; M. Ugarte


Publisher
Springer
Year
1992
Tongue
English
Weight
762 KB
Volume
15
Category
Article
ISSN
0141-8955

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✍ G. K. Brown; E. A. Haan; D. M. Kirby; R. D. Scholem; J. E. Wraith; J. G. Rogers; 📂 Article 📅 1988 🏛 Springer 🌐 English ⚖ 1003 KB

Six patients are described with a combination of early onset of neurological symptoms, gross cerebral changes and elevated concentrations of pyruvate and lactate in cerebrospinal fluid. Although at least five of the six patients appear to have a generalised defect in pyruvate metabolism, reflected i