Nutritional management of phenylalanine hydroxylase (PAH) deficiency in pediatric patients in Canada: a survey of dietitians’ current practices

BACKGROUND: Phenylalanine hydroxylase (PAH) deficiency is one of 31 targeted inherited metabolic diseases (IMD) for the Canadian Inherited Metabolic Diseases Research Network (CIMDRN). Early diagnosis and initiation of treatment through newborn screening has gradually shifted treatment goals from th...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Yuskiv, Nataliya, Potter, Beth K., Stockler, Sylvia, Ueda, Keiko, Giezen, Alette, Cheng, Barbara, Langley, Erica, Ratko, Suzanne, Austin, Valerie, Chapman, Maggie, Chakraborty, Pranesh, Collet, Jean Paul, Pender, Amy
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6323774/
https://ncbi.nlm.nih.gov/pubmed/30621767
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0978-0
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