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Otero et al., 1995 - Google Patents

Association of cerebral dysgenesis and lactic acidemia with X-linked PDH E1α subunit mutations in females

Otero et al., 1995

Document ID
16329948281347816481
Author
Otero L
Brown G
Silver K
Arnold D
Matthews P
Publication year
Publication venue
Pediatric neurology

External Links

Snippet

We describe an infant girl who presented at age 41 2 monts with developmental delay, infantile spasms, hypotonia, and elevated lactate levels in the blood and cerebrospinal fluid. She had minor dysmorphic features. Muscle phosphorus magnetic resonance spectroscopy …
Continue reading at www.sciencedirect.com (other versions)

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