Classical galactosaemia (McKusick 230400) is an: autosomal recessive disorder of
galactose metabolism, caused by a deficiency of the enzyme galactose‐1‐phosphate …

BACKGROUND: Approximately 1% of all newborns display some form of congenital heart
disease (CHD). Successful medical and surgical management of CHD has allowed 85% of …

The hyperimmunoglobulinemia D and periodic fever syndrome (HIDS), one of the
autoinflammatory syndromes, is caused by mutations in the gene coding for mevalonate …

Objectives To compare health-related quality of life (HRQOL) in a group of pediatric patients
with congenital heart disease (CHD) and healthy controls and patients with other chronic …

Psychosocial interventions for recurrent abdominal pain in childhood - Abbott, RA - 2017 |
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Objective: To examine the impact of previously operated complex congenital heart disease
on health related quality of life and subjective health status and to determine the relation …

A recent study indicated that the quality of life in adult patients with congenital heart disease
was better than that of their healthy counterparts. A possible explanation for this is that these …

Introduction Prevalence of congenital heart disease (CHD) has increased in recent years,
and patients with CHD have to deal with sequelae of the multiple medical and surgical …

Objective: To assess health-related quality of life (HRQoL), depressed mood, and self-
esteem in adolescents with heart disease and compare them with age-matched healthy …

Objective. Classical galactosemia (McKusick 230400) is an autosomal recessive disorder of
galactose metabolism caused by a deficiency of galactose-1-phosphate uridyltransferase …