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Novel mutations in two unrelated Italian patients with SSADH deficiency |
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| Authors: | Balzarini Marta Rovelli Valentina Paci Sabrina Rigoldi Miriam Sanna Giuseppina Pillai Sara Asunis Marilisa Parini Rossella Ciminelli Bianca Maria Malaspina Patrizia |
| Affiliation: | 1.Pediatric Clinic and Rare Disease Department, Antonio Cao Pediatric Hospital, Cagliari, Italy ;2.Pediatric Department, San Paolo Hospital, ASST Santi Paolo e Carlo, University of Milan, Milan, Italy ;3.Rare Metabolic Disease Unit, San Gerardo University Hospital, Monza, Italy ;4.Neonatal Screening Center, Antonio Cao Pediatric Hospital, Cagliari, Italy ;5.Pediatric Neurology Department, Antonio Cao Pediatric Hospital, Cagliari, Italy ;6.TIGET Institute, IRCCS San Raffaele Hospital, Milan, Italy ;7.Department of Biology, University of Rome Tor Vergata, Via della Ricerca Scientifica, snc, 00133, Rome, Italy ; |
| Abstract: | Metabolic Brain Disease - Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare autosomal recessive disorder of γ-aminobutyric acid (GABA) catabolism caused by mutations in the... |
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