Novel magnetic resonance imaging findings in a patient with short chain acyl CoA dehydrogenase deficiency-Reference-Cited by-同舟云学术

Novel magnetic resonance imaging findings in a patient with short chain acyl CoA dehydrogenase deficiency

Published:2017-04-03 Issue:4 Volume:32 Page:967-970
ISSN:0885-7490
Container-title:Metabolic Brain Disease
language:en
Short-container-title:Metab Brain Dis

Author:

Chiplunkar Shwetha,Bindu Parayil Sankaran^ORCID,Nagappa Madhu,Panikulam Bobby Baby,Arvinda Hanumanthapura R,Govindaraj Periyasamy,Srinivas Bharath MM,Gayathri Narayanappa,Jessiena Ponmalar JN,Mathuranath Pavagada S,Sinha Sanjib,Taly Arun B.

Funder

Indian Council of Medical Research (IN)

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Clinical Neurology,Biochemistry

Link

http://link.springer.com/article/10.1007/s11011-017-0005-5/fulltext.html

Reference15 articles.

1. Amendt BA, Greene C, Sweetman L, Cloherty J, Shih V, Moon A et al (1987) Short-chain acyl-coenzyme A dehydrogenase deficiency clinical and biochemical studies in two patients. J Clin Invest 79(5):1303–1309

2. Bennett MJ (2010) Pathophysiology of fatty acid oxidation disorders. J Inherit Metab Dis 33(5):533–537

3. Bhala A, Willi SM, Rinaldo P, Bennett MJ, Schmidt-Sommerfeld E, Hale DE (1995) Clinical and biochemical characterization of short-chain acyl-coenzyme a dehydrogenase deficiency. J Pediatr 126(6):910–915

4. Coates PM, Hale DE, Finocchiaro G, Tanaka K, Winter SC (1988) Genetic deficiency of short-chain acyl-coenzyme A dehydrogenase in cultured fibroblasts from a patient with muscle carnitine deficiency and severe skeletal muscle weakness. J Clin Invest 81(1):171–175

5. Gallant NM, Leydiker K, Tang H, Feuchtbaum L, Lorey F, Puckett R et al (2012) Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California. Mol Genet Metab 106(1):55–61

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1. Quantification of Differential Metabolites in Dried Blood Spots Using Second-Tier Testing for SCADD/IBDD Disorders Based on Large-Scale Newborn Screening in a Chinese Population;Frontiers in Pediatrics;2021-11-19

2. Broadening the Picture of Short-Chain Acyl-CoA Dehydrogenase Deficiency: A Case Report with Microcephaly, Leukoencephalopathy, and Characteristic Magnetic Resonance Spectroscopic Findings;Journal of Pediatric Neurology;2017-11-06

3. Erratum to: Novel magnetic resonance imaging findings in a patient with short chain acyl CoA dehydrogenase deficiency;Metabolic Brain Disease;2017-05-02