Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency-Reference-Cited by-同舟云学术

Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency

Published:2016 Issue: Volume: Page:111-115
ISSN:2192-8304
Container-title:JIMD Reports
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Author:

Attri Savita Verma,Singhi Pratibha,Wiwattanadittakul Natrujee,Goswami Jyotindra N.,Sankhyan Naveen,Salomons Gajja S.,Roullett Jean-Baptiste,Hodgeman Ryan,Parviz Mahsa,Gibson K. Michael,Pearl Phillip L.

Publisher

Springer Berlin Heidelberg

Link

http://link.springer.com/content/pdf/10.1007/8904_2016_14

Reference41 articles.

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2. Aoshima T, Kajita M, Sekido Y et al (2002) Mutation analysis in a patient with succinic semialdehyde dehydrogenase deficiency: a compound heterozygote with 103-121del and 1460T > A of the ALDH5A1 gene. Hum Hered 53:42–44

3. Bekri S, Fossoud C, Plaza G et al (2004) The molecular basis of succinic semialdehyde dehydrogenase deficiency in one family. Mol Genet Metab 81:347–351

4. Brown GK, Cromby CH, Manning NJ, Pollitt RJ (1987) Urinary organic acids in succinic semialdehyde dehydrogenase deficiency: evidence of alpha-oxidation of 4-hydroxybutyric acid, interaction of succinic semialdehyde with pyruvate dehydrogenase and possible secondary inhibition of mitochondrial beta-oxidation. J Inherit Metab Dis 10:367–375

5. Dayan C, Ülker M, Akgün YH, Günaydin S, Atay T, Arpaci B (2006) Succinic semialdehyde dehydrogenase deficiency: three sibling in a family (case report). J Neurol Sci (Turkish) 23:129–134

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