Novel mutations in two unrelated Italian patients with SSADH deficiency-Reference-Cited by-同舟云学术

Novel mutations in two unrelated Italian patients with SSADH deficiency

Published:2019-07-02 Issue:5 Volume:34 Page:1515-1518
ISSN:0885-7490
Container-title:Metabolic Brain Disease
language:en
Short-container-title:Metab Brain Dis

Author:

Balzarini Marta,Rovelli Valentina,Paci Sabrina,Rigoldi Miriam,Sanna Giuseppina,Pillai Sara,Asunis Marilisa,Parini Rossella,Ciminelli Bianca Maria,Malaspina Patrizia^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Biochemistry

Link

http://link.springer.com/content/pdf/10.1007/s11011-019-00453-w.pdf

Reference19 articles.

1. Akaboshi S, Hogema BM, Novelletto A, Malaspina P, Salomons GS, Maropoulos GD, Jakobs C, Grompe M, Gibson KM (2003) Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency. Hum Mutat 22:442–450

2. Blasi P, Pilo-Boyl P, Ledda M, Novelletto A, Gibson KM, Jakobs C, Hogema B, Akaboshi S, Loreni F, Malaspina P (2002) Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms. Mol Genet Metab 76:348–362

3. Chambliss KL, Hinson DD, Trettel F, Malaspina P, Novelletto A, Jakobs C, Gibson KM (1998) Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria). Am J Hum Genet 63:399–408

4. DiBacco ML, Roullet JB, Kapur K, Brown MN, Walters DC, Gibson KM, Pearl PL (2018) Age-related phenotype and biomarker changes in SSADH deficiency. Ann Clin Transl Neurol 6:114–120

5. Gibson KM, Aramaki S, Sweetman L, Nyhan WL, DeVivo DC, Hodson AK, Jakobs C (1990) Stable isotope dilution analysis of 4-hydroxybutyric acid: an accurate method for quantification in physiological fluids and the prenatal diagnosis of 4-hydroxybutyric aciduria. Biomed Environ Mass Spectrom 19:89–93

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