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Medium-term open label trial of L-carnitine in Rett syndrome.

Publication

Holocarboxylase synthetase deficiency: urinary metabolites masked by gross ketosis.

Publication

Novel mitochondrial 16S rRNA polymorphism in a girl with Rett syndrome.

Publication

First prenatal diagnosis of the carnitine transporter defect.

Publication

A syndrome of epilepsy, dementia, and amelogenesis imperfecta: genetic and clinical features.

Publication

Rett syndrome: revised diagnostic criteria and nomenclature.

Publication

The PRPP synthetase spectrum: what does it demonstrate about nucleotide syndromes?

Publication

Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.

Publication

Experience of gastrostomy using a quality care framework: the example of rett syndrome.

Publication

Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome-like patient.