Biochemical and Histologic Pathology in an Infant with Cross-Reacting Material (Negative) Pyruvate Carboxylase Deficiency
- 1 March 1986
- journal article
- research article
- Published by Springer Nature in Pediatric Research
- Vol. 20 (3) , 274-279
- https://doi.org/10.1203/00006450-198603000-00016
Abstract
Pediatric Research publishes original papers, invited reviews, and commentaries on the etiologies of diseases of children and disorders of development, extending from molecular biology to epidemiology. Use of model organisms and in vitro techniques relevant to developmental biology and medicine are acceptable, as are translational human studies.Keywords
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- THE MOLECULAR-BASIS FOR THE 2 DIFFERENT CLINICAL PRESENTATIONS OF CLASSICAL PYRUVATE-CARBOXYLASE DEFICIENCY1984
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