2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: An X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease

  1. García-Villoria, J.
  2. Ofman, R.
  3. Sala, P.R.
  4. Merinero, B.
  5. Ramos, J.
  6. García-Silva, M.T.
  7. Beseler, B.
  8. Dalmau, J.
  9. Wanders, R.J.A.
  10. Ugarte, M.
  11. Ribes, A.
Revue:
Pediatric Research

ISSN: 0031-3998

Année de publication: 2005

Volumen: 58

Número: 3

Pages: 488-491

Type: Article

DOI: 10.1203/01.PDR.0000176916.94328.CD GOOGLE SCHOLAR lock_openAccès ouvert editor