M. García Silva

PDH E1β deficiency with novel mutations in two patients with Leigh syndrome

A. Ribes, P. Briones, W. Sperl, 2009, Journal of Inherited Metabolic Disease.

Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene

S. Seneca, L. de Meirleir, W. Lissens, 2003, American journal of medical genetics. Part A.

[Usefulness of analysis of cerebrospinal fluid for the diagnosis of neurotransmitters and pterin defects and glucose and folate transport deficiencies across blood brain barrier].

B. Cormand, M. Ribasés, A. Ormazabal, 2006, Medicina clinica.

Prenatal hypertrophic cardiomyopathy and pericardial effusion in carbohydrate-deficient glycoprotein syndrome

H. Stibler, F. Mateos, I. Ferrer, 1996, Journal of Inherited Metabolic Disease.

[Permanent neonatal diabetes associated with other anomalies].

J. Sánchez del Pozo, A. Rosa García, M. García Silva, 2001, Anales espanoles de pediatria.

Mitochondrial very long-chain acyl-CoA dehydrogenase deficiency with a mild clinical course

M. Durán, C. Pérez-Cerdá, B. Merinero, 1996, Journal of Inherited Metabolic Disease.