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Publication

Clinical approach to inborn errors of metabolism presenting in the newborn period.

Publication

Flow cytometry in the study of mitochondrial respiratory chain disorders.

Publication

Rett syndrome: clinical update and review of recent genetic advances.

Publication

A population-based approach to the investigation of osteopenia in Rett syndrome.

Publication

Prolonged QT interval in Rett syndrome.

Publication

Pregnancy and argininosuccinic aciduria.

Publication

An unusual patient with the neonatal Marfan phenotype and mitochondrial complex I deficiency.

Publication

Atypical pyroglutamic aciduria: possible role of paracetamol.

Publication

14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype.

Publication

Inborn errors of purine metabolism: clinical update and therapies.