Journal article
Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review
Abstract
BackgroundInherited metabolic diseases (IMDs) are a group of individually rare single-gene diseases. For many IMDs, there is a paucity of high-quality evidence that evaluates the effectiveness of clinical interventions. Clinical effectiveness trials of IMD interventions could be supported through the development of core outcome sets (COSs), a recommended minimum set of standardized, high-quality outcomes and associated outcome measurement …
Authors
Pugliese M; Tingley K; Chow A; Pallone N; Smith M; Rahman A; Chakraborty P; Geraghty MT; Irwin J; Tessier L
Journal
Orphanet Journal of Rare Diseases, Vol. 15, No. 1,
Publisher
Springer Nature
Publication Date
December 2020
DOI
10.1186/s13023-019-1276-1
ISSN
1750-1172