Clinical burden of illness in patients with phenylketonuria (PKU) and associated comorbidities - a retrospective study of German health insurance claims data

BACKGROUND: Phenylketonuria (PKU) is an inherited deficiency in the enzyme phenylalanine hydroxylase (PAH), which, when poorly-managed, is associated with clinical features including deficient growth, microcephaly, seizures, and intellectual impairment. The management of PKU should start as soon as...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Trefz, K. F., Muntau, A. C., Kohlscheen, K. M., Altevers, J., Jacob, C., Braun, S., Greiner, W., Jha, A., Jain, M., Alvarez, I., Lane, P., Schröder, C., Rutsch, F.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6647060/
https://ncbi.nlm.nih.gov/pubmed/31331350
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1153-y
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