Browse Items (13 total)

Adolescents and young adults (AYAs) with cancer represent a unique and challenging group of patients with distinct developmental and psychosocial needs that may be unrecognized or unmet during their cancer experience. Palliative care refers to the…

Purpose: Given the burgeoning body of research relating to the psychosocial needs of adolescents and young adults (AYAs) with cancer, this review aimed to evaluate the psychometric properties and appropriateness of the instruments available for use…

TEXT A number sign (#) is used with this entry because of evidence that the Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is caused by mutation in the gene encoding glypican-3 (GPC3; 300037), which maps to chromosome Xq26. DESCRIPTION…

Glutaric aciduria type I is an autosomal recessive disorder resulting from a deficiency of glutaryl-CoA dehydrogenase. This leads to an accumulation of glutaric and 3-hydroxyglutaric acids and secondary carnitine deficiency. The symptomatology is…

HISTORICAL NOTE AND NOMENCLATURE Severe myoclonic epilepsy in infancy was described by Dravet in 1978 (Dravet 1978). In 2002 Dravet and colleagues found at least 445 published cases. The 1989 revised classification of the International League Against…

Infantile neuroaxonal dystrophy (INAD) is a rare autosomal recessive neurodegenerative disorder with onset in the first or second year of life. Frequency is unknown. It is characterized by a progressive motor and mental deterioration, bilateral…

Output Formats

atom, dcmes-xml, json, omeka-xml, rss2