Starting the conversation on gene therapy for phenylketonuria: Current perspectives of patients, caregivers, and advocates.

Regier, Debra S; Bak, Agata; Bausell, Heather; O'Reilly, Emer; Cowsert, Lex M

Regier, Debra S; Bak, Agata; Bausell, Heather; O'Reilly, Emer; Cowsert, Lex M.

Afiliación

Regier DS; Rare Disease Institute, Children's National Hospital, 7125 13th Place, NW, Washington, DC 20012, USA.
Bak A; Federación Española de Enfermedades Metabólicas Hereditarias, Luis Ruiz, 75 local 30, 28017 Madrid, Spain.
Bausell H; Universidad Autónoma del Estado de México, Insitutio Literario 100, Centro, Toluca, State of Mexico, Mexico.
O'Reilly E; Division of Clinical Nutrition & Genetics, Ann and Robert H Lurie Children's Hospital of Chicago, 225 E. Chicago Ave, Chicago, IL 60611, USA.
Cowsert LM; PKU Association of Ireland, 25 Church Street, Skerries, Dublin, Ireland.

Mol Genet Metab Rep ; 31: 100855, 2022 Jun.

Article en En | MEDLINE | ID: mdl-35782620

Palabras clave

BH4, tetrahydrobiopterin; CRISPR, clustered regularly interspaced short palindromic repeats; EMA, European Medicines Agency; Emotions; Gene therapy; LNAA, large neutral amino acid; PAH, phenylalanine hydroxylase; PKU, phenylketonuria; Phe, phenylalanine; Phenylalanine; Phenylketonuria; Quality of life; Survey; US FDA, United States Food and Drug Administration.

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Qualitative_research Aspecto: Patient_preference Idioma: En Revista: Mol Genet Metab Rep Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos

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