𝔖 Bobbio Scriptorium
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“Cerebral” lactic acidosis and biotinidase deficiency

✍ Scribed by J. Jaeken; P. Casaer


Publisher
Springer
Year
1988
Tongue
English
Weight
112 KB
Volume
148
Category
Article
ISSN
0340-6997

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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