Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals-Reference-Cited by-同舟云学术

Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals

Published:2017 Issue: Volume: Page:45-54
ISSN:2192-8304
Container-title:JIMD Reports
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Author:

Wojcik Monica H.,Wierenga Klaas J.,Rodan Lance H.,Sahai Inderneel,Ferdinandusse Sacha,Genetti Casie A.,Towne Meghan C.,Peake Roy W. A.,James Philip M.,Beggs Alan H.,Brownstein Catherine A.,Berry Gerard T.,Agrawal Pankaj B.

Publisher

Springer Berlin Heidelberg

Link

http://link.springer.com/content/pdf/10.1007/8904_2017_45

Reference24 articles.

1. Abdelkreem E, Otsuka H, Sasai H et al (2016) Beta-ketothiolase deficiency: resolving challenges in diagnosis. J Inborn Errors Metab Screen 4:1–9

2. Akella RRD, Aoyama C, Mori C, Lingappa L, Cariappa R, Fukao T (2014) Metabolic encephalopathy in beta-ketothiolase deficiency: the first report from India. Brain Dev 36:537–540

3. Buhas D, Bernard G, Fukao T, Decarie JC, Chouinard S, Mitchell GA (2013) A treatable new cause of chorea: beta-ketothiolase deficiency. Mov Disord 28:1054–1056

4. Catanzano F, Ombrone D, Di Stefano C et al (2010) The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach. J Inherit Metab Dis 33:91

5. Cazorla MR, Verdu A, Perez-Cerda C, Ribes A (2007) Neuroimage findings in 2-methyl-3-hydroxybutytyl-CoA dehydrogenase deficiency. Pediatr Neurol 36:264–267

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