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http://purl.uniprot.org/citations/18593870http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/18593870http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/18593870http://www.w3.org/2000/01/rdf-schema#comment"

Background

Ethylmalonic encephalopathy (EE) is a rare autosomal recessive metabolic disorder characterised by progressive encephalopathy, recurrent petechiae, acrocyanosis and chronic diarrhoea, with a fatal outcome in early in life.

Methods

14 patients with EE were investigated for mutations in the ETHE1 gene.

Results

Of the 14 patients, 5 were found to carry novel mutations.

Conclusions

This work expands our knowledge of the causative mutations of EE."xsd:string
http://purl.uniprot.org/citations/18593870http://purl.org/dc/terms/identifier"doi:10.1136/jmg.2008.058271"xsd:string
http://purl.uniprot.org/citations/18593870http://purl.org/dc/terms/identifier"doi:10.1136/jmg.2008.058271"xsd:string
http://purl.uniprot.org/citations/18593870http://purl.uniprot.org/core/author"Uziel G."xsd:string
http://purl.uniprot.org/citations/18593870http://purl.uniprot.org/core/author"Uziel G."xsd:string
http://purl.uniprot.org/citations/18593870http://purl.uniprot.org/core/author"Invernizzi F."xsd:string
http://purl.uniprot.org/citations/18593870http://purl.uniprot.org/core/author"Invernizzi F."xsd:string
http://purl.uniprot.org/citations/18593870http://purl.uniprot.org/core/author"Zeviani M."xsd:string
http://purl.uniprot.org/citations/18593870http://purl.uniprot.org/core/author"Zeviani M."xsd:string
http://purl.uniprot.org/citations/18593870http://purl.uniprot.org/core/author"von Dobeln U."xsd:string
http://purl.uniprot.org/citations/18593870http://purl.uniprot.org/core/author"von Dobeln U."xsd:string
http://purl.uniprot.org/citations/18593870http://purl.uniprot.org/core/author"Tiranti V."xsd:string
http://purl.uniprot.org/citations/18593870http://purl.uniprot.org/core/author"Tiranti V."xsd:string
http://purl.uniprot.org/citations/18593870http://purl.uniprot.org/core/author"Burlina A.B."xsd:string
http://purl.uniprot.org/citations/18593870http://purl.uniprot.org/core/author"Burlina A.B."xsd:string
http://purl.uniprot.org/citations/18593870http://purl.uniprot.org/core/author"Rimoldi M."xsd:string
http://purl.uniprot.org/citations/18593870http://purl.uniprot.org/core/author"Rimoldi M."xsd:string
http://purl.uniprot.org/citations/18593870http://purl.uniprot.org/core/author"Mereghetti P."xsd:string
http://purl.uniprot.org/citations/18593870http://purl.uniprot.org/core/author"Mereghetti P."xsd:string
http://purl.uniprot.org/citations/18593870http://purl.uniprot.org/core/author"Di Meo I."xsd:string
http://purl.uniprot.org/citations/18593870http://purl.uniprot.org/core/author"Di Meo I."xsd:string
http://purl.uniprot.org/citations/18593870http://purl.uniprot.org/core/author"Heese B."xsd:string
http://purl.uniprot.org/citations/18593870http://purl.uniprot.org/core/author"Heese B."xsd:string
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