Pyruvate dehydrogenase deficiency: clinical and biochemical diagnosis. [electronic resource]
Producer: 19930922Description: 216-20 p. digitalISSN:- 0887-8994
- Brain -- abnormalities
- Chromosome Mapping
- Female
- Humans
- Infant, Newborn
- Lactates -- cerebrospinal fluid
- Lactic Acid
- Liver -- pathology
- Magnetic Resonance Imaging
- Microbodies -- ultrastructure
- Microscopy, Electron
- Muscles -- pathology
- Neurologic Examination
- Pyruvate Dehydrogenase (Lipoamide)
- Pyruvate Dehydrogenase Complex -- genetics
- Pyruvate Dehydrogenase Complex Deficiency Disease -- diagnosis
- Pyruvates -- cerebrospinal fluid
- Pyruvic Acid
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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