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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Publicat a:Orphanet J Rare Dis
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2020
Matèries:
Review
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6961328/
https://ncbi.nlm.nih.gov/pubmed/31937333
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1276-1
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