caa a22 4500 467933480 CHVBK 20180406152950.0 cr unu---uuuuu 170328e20060801xx s 000 0 eng 10.1007/s10545-006-0277-0 doi (NATIONALLICENCE)springer-10.1007/s10545-006-0277-0 Succinic semialdehyde dehydrogenase (SSADH) deficiency: Molecular analysis in a South American family [Elektronische Daten] [Aida Lemes, Paola Blasi, Gabriel Gonzales, Maria Russi, Roberto Quadrelli, Andrea Novelletto, Patrizia Malaspina] Summary: We report the clinical, biochemical and molecular findings on the first documented patient with 4-hydroxybutyric aciduria (4-HBA, McKusick 271980) from Uruguay. The patient displayed a severe picture and turned out to be homozygous for a mutation (c.1226G < A) previously shown to be associated with null enzyme activity. SSIEM and Springer, 2006 Lemes Aida Medical Genetics Institute, Italian Hospital, Montevideo, Uruguay aut Blasi Paola Department of Biology, Tor Vergata University, Via della Ricerca Scientifica, I-00133, Rome, Italy aut Gonzales Gabriel Neuropediatric Service, Pereira Rossell Children's Hospital, Montevideo, Uruguay aut Russi Maria Neuropediatric Service, Pereira Rossell Children's Hospital, Montevideo, Uruguay aut Quadrelli Roberto Medical Genetics Institute, Italian Hospital, Montevideo, Uruguay aut Novelletto Andrea Department of Biology, Tor Vergata University, Via della Ricerca Scientifica, I-00133, Rome, Italy aut Malaspina Patrizia Department of Biology, Tor Vergata University, Via della Ricerca Scientifica, I-00133, Rome, Italy aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/4(2006-08-01), 587-587 0141-8955 29:4<587 2006 29 10545 https://doi.org/10.1007/s10545-006-0277-0 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0277-0 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Lemes Aida Medical Genetics Institute, Italian Hospital, Montevideo, Uruguay aut NATIONALLICENCE 700 1- Blasi Paola Department of Biology, Tor Vergata University, Via della Ricerca Scientifica, I-00133, Rome, Italy aut NATIONALLICENCE 700 1- Gonzales Gabriel Neuropediatric Service, Pereira Rossell Children's Hospital, Montevideo, Uruguay aut NATIONALLICENCE 700 1- Russi Maria Neuropediatric Service, Pereira Rossell Children's Hospital, Montevideo, Uruguay aut NATIONALLICENCE 700 1- Quadrelli Roberto Medical Genetics Institute, Italian Hospital, Montevideo, Uruguay aut NATIONALLICENCE 700 1- Novelletto Andrea Department of Biology, Tor Vergata University, Via della Ricerca Scientifica, I-00133, Rome, Italy aut NATIONALLICENCE 700 1- Malaspina Patrizia Department of Biology, Tor Vergata University, Via della Ricerca Scientifica, I-00133, Rome, Italy aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/4(2006-08-01), 587-587 0141-8955 29:4<587 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer