Publicaciones en las que colabora con MARÍA TERESA GARCÍA SILVA (20)

2017

  1. Myopathic mtDNA depletion syndrome due to mutation in TK2 Gene

    Pediatric and Developmental Pathology, Vol. 20, Núm. 5, pp. 416-420

  2. The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome

    Clinical Genetics, Vol. 91, Núm. 1, pp. 46-53

2008

  1. Mitochondrial diseases associated with cerebral folate deficiency

    Neurology, Vol. 70, Núm. 16, pp. 1360-1362

2005

  1. Renal pathology in children with mitochondrial diseases

    Pediatric Nephrology, Vol. 20, Núm. 9, pp. 1299-1305

1998

  1. Clinical heterogeneity associated with mitochondrial DNA depletion in muscle

    Neuromuscular Disorders, Vol. 8, Núm. 8, pp. 568-573

1997

  1. Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria

    Pediatric Neurology, Vol. 17, Núm. 2, pp. 165-170