Publications by authors named "De Vanssay De Blavous-Legendre Caroline"

Glycine encephalopathy (MIM #605899) is an autosomal recessive inborn error of metabolism caused by pathogenic variants in three genes , , encoding glycine cleavage enzyme system. We report an 8-year-old boy with late-onset glycine encephalopathy who harbors a novel homozygous likely pathogenic variant c.707G > A p.

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