Pyruvate dehydrogenase E1 alpha deficiency in a family: different clinical presentation in two siblings

  • J Inherit Metab Dis. 1998 Jun;21(3):224-6. doi: 10.1023/a:1005347501111.
L De Meirleir  1 ,  N Specola ,  S Seneca ,  W Lissens
Affiliations
  • 1. Pediatric Neurology and Medical Genetics, AZ-VUB Brussels, Belgium.
PMID: 9686362 DOI: 10.1023/a:1005347501111