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Infantile parkinsonism and GABAergic hypotransmission in a patient with pyruvate carboxylase deficiency.

Ortez, C

Infantile parkinsonism and GABAergic hypotransmission in a patient with pyruvate carboxylase deficiency. [electronic resource] - Gene Dec 2013 - 302-6 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

ISSN: 1879-0038

Standard No.: 10.1016/j.gene.2013.08.036 doi

Subjects--Topical Terms:
Brain--metabolism
Fatal Outcome
Female
GABAergic Neurons--physiology
Humans
Parkinsonian Disorders--diagnosis
Pyruvate Carboxylase Deficiency Disease--diagnosis
Synaptic Transmission
Tyrosine 3-Monooxygenase--metabolism

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