A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Epsilon1alpha gene.

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Bibliographic Details
Title: A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Epsilon1alpha gene.
Authors: Tulinius M; Department of Paediatrics, Sahlgrenska University Hospital/Ostra, 41685 Göteborg, Sweden. mar.tulinius@vgregion.se, Darin N, Wiklund LM, Holmberg E, Eriksson JE, Lissens W, De Meirleir L, Holme E
Source: European journal of pediatrics [Eur J Pediatr] 2005 Feb; Vol. 164 (2), pp. 99-103. Date of Electronic Publication: 2004 Nov 19.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0340-6199 (Print) Linking ISSN: 03406199 NLM ISO Abbreviation: Eur J Pediatr Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:0340-6199
DOI:10.1007/s00431-004-1570-2