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Novel mutations in two unrelated Italian patients with SSADH deficiency

Marta Balzarini1, Valentina Rovelli2, Sabrina Paci2

  • 1Pediatric Clinic and Rare Disease Department, Antonio Cao Pediatric Hospital, Cagliari, Italy.

Metabolic Brain Disease
|July 4, 2019
PubMed

Keywords:
4-HBA (4-hydroxybutiric aciduria)ALDH5A1 geneGABA (γ-aminobutyric acid)GHB (γ-hydroxybutyric acid)SSADHD (succinic semialdehyde dehydrogenase deficiency)

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