1.
Jakobs, C, Bojasch, M, Mönch, E, Rating, D, Siemes, H, Hanefeld, F. Urinary excretion of gamma-hydroxybutyric acid in a patient with neurological abnormalities. The probability of a new inborn error of metabolism. Clin Chim Acta. 1981;111(2-3):169–178.
Google Scholar |
Crossref |
Medline2.
Chambliss, KL, Hinson, DD, Trettel, F, et al. Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria). Am J Hum Genet. 1998;63(2):399–408.
Google Scholar |
Crossref |
Medline3.
Forni, S, Pearl, PL, Gibson, KM, Yu, Y, Sweetman, L. Quantitation of gamma-hydroxybutyric acid in dried blood spots: feasibility assessment for newborn screening of succinic semialdehyde dehydrogenase (SSADH) deficiency. Mol Genet Metab. 2013;109(3):255–259.
Google Scholar |
Crossref |
Medline4.
Stove, CP, Ingels, AS, Lambert, WE. Quantitation of gamma-hydroxybutyric acid in dried blood spots in newborn screening. Mol Genet Metab. 2013;110(1-2):195.
Google Scholar |
Crossref |
Medline5.
Jansen, EE, Vogel, KR, Salomons, GS, Pearl, PL, Roullet, JB, Gibson, KM. Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism. J Inherit Metab Dis. 2016;39(6):795–800.
Google Scholar |
Crossref |
Medline6.
Johansen, SS, Wang, X, Sejer Pedersen, D, et al. Gamma-hydroxybutyrate (GHB) content in hair samples correlates negatively with age in succinic semialdehyde dehydrogenase deficiency. JIMD Rep. 2017;36:93–98.
Google Scholar |
Crossref |
Medline7.
Brown, M, Ashcraft, P, Arning, E, Bottiglieri, T, Roullet, JB, Gibson, KM. Gamma-hydroxybutyrate content in dried bloodspots facilitates newborn detection of succinic semialdehyde dehydrogenase deficiency. Mol Genet Metab. 2019;128(1-2):109–112.
Google Scholar |
Crossref |
Medline8.
UniProt: a worldwide hub of protein knowledge . Nucleic Acids Res. 2019;47(D1):D506–d515.
Google Scholar |
Crossref |
Medline9.
Henrie, A, Hemphill, SE, Ruiz-Schultz, N, et al. ClinVar miner: demonstrating utility of a Web-based tool for viewing and filtering ClinVar data. Hum Mutat. 2018;39(8):1051–1060.
Google Scholar |
Crossref |
Medline10.
Gibson, KMJ C . Disorders of beta- and alpha-amino acids in free and peptide-linked forms. In: Scriver, CR, Beaudet, AL, Sly, WS, et al. eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York, NY: McGraw-Hill; 2001:2079–2105.
Google Scholar11.
Pearl, PL, Gibson, KM, Acosta, MT, et al. Clinical spectrum of succinic semialdehyde dehydrogenase deficiency. Neurology. 2003;60(9):1413–1417.
Google Scholar |
Crossref |
Medline12.
Karczewski, KJ, Francioli, LC, Tiao, G, et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020;581(7809):434–443.
Google Scholar |
Crossref |
Medline13.
Richards, S, Aziz, N, Bale, S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–424.
Google Scholar |
Crossref |
Medline |
ISI14.
Cappuccio, G, Donti, TR, Hubert, L, Sun, Q, Elsea, SH. Opening a window on lysosomal acid lipase deficiency: Biochemical, molecular, and epidemiological insights. J Inherit Metab Dis. 2019;42(3):509–518.
Google Scholar |
Crossref |
Medline15.
Walters-Sen, LC, Hashimoto, S, Thrush, DL, et al. Variability in pathogenicity prediction programs: impact on clinical diagnostics. Mol Genet Genomic Med. 2015;3(2):99–110.
Google Scholar |
Crossref |
Medline16.
Pattarelli, PP, Nyhan, WL, Gibson, KM. Oxidation of [U-14C]succinic semialdehyde in cultured human lymphoblasts: measurement of residual succinic semialdehyde dehydrogenase activity in 11 patients with 4-hydroxybutyric aciduria. Pediatr Res. 1988;24(4):455–460.
Google Scholar |
Crossref |
Medline17.
Akaboshi, S, Hogema, BM, Novelletto, A, et al. 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. 2003;22(6):442–450.
Google Scholar |
Crossref |
Medline18.
Aoshima, T, Kajita, M, Sekido, Y, et al. Mutation analysis in a patient with succinic semialdehyde dehydrogenase deficiency: a compound heterozygote with 103-121del and 1460 T>A of the ALDH5A1 gene. Hum Hered. 2002;53(1):42–44.
Google Scholar |
Crossref |
Medline19.
Menduti, G, Biamino, E, Vittorini, R, et al. Succinic semialdehyde dehydrogenase deficiency: the combination of a novel ALDH5A1 gene mutation and a missense SNP strongly affects SSADH enzyme activity and stability. Mol Genet Metab. 2018;124(3):210–215.
Google Scholar |
Crossref |
Medline
Comments (0)