Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review

BACKGROUND: Inherited 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...

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Detalles Bibliográficos
Autores principales: Pugliese, Michael, Tingley, Kylie, Chow, Andrea, Pallone, Nicole, Smith, Maureen, Rahman, Alvi, Chakraborty, Pranesh, Geraghty, Michael T., Irwin, Julie, Tessier, Laure, Nicholls, Stuart G., Offringa, Martin, Butcher, Nancy J., Iverson, Ryan, Clifford, Tammy J., Stockler, Sylvia, Hutton, Brian, Paik, Karen, Tao, Jessica, Skidmore, Becky, Coyle, Doug, Duddy, Kathleen, Dyack, Sarah, Greenberg, Cheryl R., Ghai, Shailly Jain, Karp, Natalya, Korngut, Lawrence, Kronick, Jonathan, MacKenzie, Alex, MacKenzie, Jennifer, Maranda, Bruno, Mitchell, John J., Potter, Murray, Prasad, Chitra, Schulze, Andreas, Sparkes, Rebecca, Taljaard, Monica, Trakadis, Yannis, Walia, Jagdeep, Potter, Beth K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6961328/
https://www.ncbi.nlm.nih.gov/pubmed/31937333
http://dx.doi.org/10.1186/s13023-019-1276-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6961328/
https://www.ncbi.nlm.nih.gov/pubmed/31937333
http://dx.doi.org/10.1186/s13023-019-1276-1

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