Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes-Reference-Cited by-同舟云学术

Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes

Published:2020-03-14 Issue:4 Volume:35 Page:601-614
ISSN:0885-7490
Container-title:Metabolic Brain Disease
language:en
Short-container-title:Metab Brain Dis

Author:

Kirby Trevor,Walters Dana C.,Brown Madalyn,Jansen Erwin,Salomons Gajja S.,Turgeon Coleman,Rinaldo Piero,Arning Erland,Ashcraft Paula,Bottiglieri Teodoro,Roullet Jean-Baptiste,Gibson K. Michael

Funder

National Institute of Child Health and Development

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Clinical Neurology,Biochemistry

Link

http://link.springer.com/content/pdf/10.1007/s11011-020-00550-1.pdf

Reference32 articles.

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2. Almeida LS, Verhoeven NM, Roos B, Valongo C, Cardoso ML, Vilarinho L, Salomons GS, Jakobs C (2004) Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport. Mol Genet Metab 82:214–219

3. Berendse K, Engelen M, Ferdinandusse S, Majoie CB, Waterham HR, Vaz FM, Koelman JH, Barth PG, Wanders RJ, Poll-The BT (2016) Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood. J Inherit Metab Dis 39:93–106

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. Brown M, Ashcraft P, Arning E, Bottiglieri T, Roullet JB, Gibson KM (2019) Gamma-Hydroxybutyrate content in dried bloodspots facilitates newborn detection of succinic semialdehyde dehydrogenase deficiency. Mol Genet Metab 128:109–112

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