First described in 1983, Barth syndrome (BTHS) is widely regarded as a rare X-linked
genetic disease characterised by cardiomyopathy (CM), skeletal myopathy, growth delay …

Nonmotor symptoms (NMS) of Parkinson's disease (PD) are not well recognized in clinical
practice, either in primary or in secondary care, and are frequently missed during routine …

Objectives: To accurately establish the incidence of falls in Parkinson's disease (PD) and to
investigate predictive risk factors for fallers from baseline data. Methods: 109 subjects with …

Background: Lipid emulsions used for parenterai nutrition (PN) contain phytosterols. Our
hypothesis was that these phytosterols can accumulate and contribute to cholestatic liver …

Background: The issue of when to start treatment in Parkinson's disease (PD) remains
controversial. Some favour treatment at diagnosis while others opt for a “wait and watch” …

This study compares the sensitivity of a Patient Questionnaire versus information gathered
by clinicians at a routine clinic visit in recognizing symptoms of wearing‐off in early …

A common polymorphism has been described in the methylenetetrahydrofolate reductase
(MTHFR) gene, substituting an alanine (A) for a valine (V), where the V allele results in a …

Accurate diagnosis and management of inborn errors of monoamine neurotransmitter and
tetrahydrobiopterin metabolism depend on reliable reference ranges of key metabolites …

This manuscript provides a practical summary of guidelines for institution of apomorphine
subcutaneous injectable therapy, including patient education, pre-treatment issues, dosage …

Measurements of 25-hydroxyvitamin D 2 (D2) 1 and 25-hydroxyvitamin D 3 (D3) are used to
detect vitamin D deficiency and monitor vitamin D supplementation. Interlaboratory variation …