Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM)

Title
Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM)
Authors
Keywords
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Journal
MOLECULAR GENETICS AND METABOLISM
Volume 104, Issue 3, Pages 362-368
Publisher
Elsevier BV
Online
2011-06-06
DOI
10.1016/j.ymgme.2011.05.019

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