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

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 possible aft...

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Main Authors: Trefz, Friedrich K. (Author) , Muntau, A. C. (Author) , Kohlscheen, K. M. (Author) , Altevers, J. (Author) , Jacob, C. (Author) , Braun, S. (Author) , Greiner, W. (Author) , Jha, A. (Author) , Jain, M. (Author) , Alvarez, I. (Author) , Lane, P. (Author) , Schröder, C. (Author) , Rutsch, F. (Author)
Format: Article (Journal)
Language:English
Published: 22 July 2019
In: Orphanet journal of rare diseases
Year: 2019, Volume: 14, Pages: 1-16
ISSN:1750-1172
DOI:10.1186/s13023-019-1153-y
Online Access:Verlag, Volltext: https://doi.org/10.1186/s13023-019-1153-y
Verlag: https://doi.org/10.1186/s13023-019-1153-y
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Author Notes:K.F. Trefz, A.C. Muntau, K.M. Kohlscheen, J. Altevers, C. Jacob, S. Braun, W. Greiner, A. Jha, M. Jain, I. Alvarez, P. Lane, C. Schröder and F. Rutsch
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Summary: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 possible after diagnosis to prevent irreversible damage and be maintained throughout life. The aim of this study was to assess the burden of illness in PKU patients in general and in PKU patients born before and after the introduction of newborn screening in Germany.
Item Description:Gesehen am 18.12.2019
Physical Description:Online Resource
ISSN:1750-1172
DOI:10.1186/s13023-019-1153-y

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