Publication Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families.
Publication Low citrulline may not be diagnostic of ornithine transcarbamylase deficiency: a case report.
Publication Acylcarnitine profiles in fibroblasts from patients with respiratory chain defects can resemble those from patients with mitochondrial fatty acid beta-oxidation disorders.
Publication A case of multiple congenital anomalies in association with Rett syndrome confirmed by MECP2 mutation screening.
Publication Respiratory chain complex III [correction of complex] in deficiency with pruritus: a novel vitamin responsive clinical feature.
