Phenylketonuria in the adult patient

Author:

Ceberio Leticia1,Hermida Álvaro2,Venegas Eva3,Arrieta Francisco4,Morales Montserrat5,Forga Maria6,Gonzalo Montserrat7

Affiliation:

1. Inborn metabolic disease unit, Internal Medicine Service, Hospital Universitario de Cruces, Baracaldo, Vizcaya, Spain

2. Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Internal Medicine Service, Hospital Clínico Universitario de Santiago, Santiago de Compostela, Spain

3. Endocrinology and Nutrition Service, C.U.S.R Congenital Metabolic Disease, Hospital Universitario Virgen del Rocío, Sevilla, Spain

4. Departament Endocrinology Metabolism and Nutrion, C.U.S.R Congenital Metabolic Disease, CIBER Physiopathology of Obesity and Nutrition (CIBERobn), Ramón y Cajal Health Research Institute (IRYCIS), Madrid, Spain

5. Inborn Metabolic Disease Service, C.S.U.R of Congenital Metabolic Diseases, Internal Medicine Service, Hospital 12 de octubre, Madrid, Spain

6. Endocrinology and Nutrition Department, Hospital Clinic, Barcelona, Spain

7. UGC Endocrinology and Nutrition, Hospital Regional Universitario de Málaga, Instituto de Biomedicina de Málaga (IBIMA) & CIBER de Diabetes y Enfermedades Metabólicas asociadas (CIBERDEM), Málaga, Spain

Funder

BioMarin Spain

Publisher

Informa UK Limited

Subject

Pharmacology (medical),Health Policy,Pharmacology, Toxicology and Pharmaceutics (miscellaneous)

Reference98 articles.

1. Phenylketonuria

2. Bélanger-Quintana A, Campistol J, Stanescu S, et al. [Protocol of diagnosis, treatment and follow-up of hyperphenylalaninemia]. [Protocol of diagnosis and treatment of metabolism inborn errors]. Majadahonda, Madrid: Ergon; 2018. p. 67.

3. Neonatal screening in Europe; the situation in 2004

4. The complete European guidelines on phenylketonuria: diagnosis and treatment

5. Newborn screening 50 years later: access issues faced by adults with PKU

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