Can untreated PKU patients escape from intellectual disability? A systematic review
Can untreated PKU patients escape from intellectual disability? A systematic review
About this item
Full title
Author / Creator
van Vliet, Danique , van Wegberg, Annemiek M. J. , Ahring, Kirsten , Bik-Multanowski, Miroslaw , Blau, Nenad , Bulut, Fatma D. , Casas, Kari , Didycz, Bozena , Djordjevic, Maja , Federico, Antonio , Feillet, François , Gizewska, Maria , Gramer, Gwendolyn , Hertecant, Jozef L. , Hollak, Carla E. M. , Jørgensen, Jens V. , Karall, Daniela , Landau, Yuval , Leuzzi, Vincenzo , Mathisen, Per , Moseley, Kathryn , Mungan, Neslihan Ö. , Nardecchia, Francesca , Õunap, Katrin , Powell, Kimberly K. , Ramachandran, Radha , Rutsch, Frank , Setoodeh, Aria , Stojiljkovic, Maja , Trefz, Fritz K. , Usurelu, Natalia , Wilson, Callum , van Karnebeek, Clara D. , Hanley, William B. and van Spronsen, Francjan J.
Publisher
England: BioMed Central
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central
Subjects
More information
Scope and Contents
Contents
Phenylketonuria (PKU) is often considered as the classical example of a genetic disorder in which severe symptoms can nowadays successfully be prevented by early diagnosis and treatment. In contrast, untreated or late-treated PKU is known to result in severe intellectual disability, seizures, and behavioral disturbances. Rarely, however, untreated...
Alternative Titles
Full title
Can untreated PKU patients escape from intellectual disability? A systematic review
Authors, Artists and Contributors
Author / Creator
van Wegberg, Annemiek M. J.
Ahring, Kirsten
Bik-Multanowski, Miroslaw
Blau, Nenad
Bulut, Fatma D.
Casas, Kari
Didycz, Bozena
Djordjevic, Maja
Federico, Antonio
Feillet, François
Gizewska, Maria
Gramer, Gwendolyn
Hertecant, Jozef L.
Hollak, Carla E. M.
Jørgensen, Jens V.
Karall, Daniela
Landau, Yuval
Leuzzi, Vincenzo
Mathisen, Per
Moseley, Kathryn
Mungan, Neslihan Ö.
Nardecchia, Francesca
Õunap, Katrin
Powell, Kimberly K.
Ramachandran, Radha
Rutsch, Frank
Setoodeh, Aria
Stojiljkovic, Maja
Trefz, Fritz K.
Usurelu, Natalia
Wilson, Callum
van Karnebeek, Clara D.
Hanley, William B.
van Spronsen, Francjan J.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_fa8d0419b00e4e5aaeec6593e5894762
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_fa8d0419b00e4e5aaeec6593e5894762
Other Identifiers
ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-018-0890-7
