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Leigh syndrome due to pyruvate dehydrogenase E1α deficiency (point mutation R263G) in a Spanish boy
Author(s) -
Briones P.,
López M. J.,
De Meirleir L.,
Ribes A.,
Rodés M.,
MartinezCosta C.,
Peris M.,
Lissens W.
Publication year - 1996
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01799177
Subject(s) - medicine , humanities , philosophy