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Diagnostik og behandling af fenylketonuri

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  1. Impaired lipolysis in propionic acidemia: A new metabolic myopathy?

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  2. Increased risk of sudden death in untreated Primary Carnitine Deficiency

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  3. Cystic fibrosis newborn screening in Denmark: Experience from the first 2 years

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  4. Danish expanded newborn screening is a successful preventive public health programme

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Primary phenylalanine hydroxylase deficiency, also known as phenylketonuria, results in accumulation of phenylalanine in the blood. Early identification and treatment prevents the majority of clinical sequelae to the disease, but psychological and neurodevelopmental problems can occur in some patients. This article reviews the symptoms, diagnosis, classification and strategies of treatment and management of phenylketonuria. Finally we review new pharmacological and non-pharmaco-logical means of treatment.

Translated title of the contributionDiagnostics and treatment of phenylketonuria.
Original languageDanish
JournalUgeskrift for læger [online]
Volume177
Issue number8
Pages (from-to)V07140383
ISSN1603-6824
Publication statusPublished - 16 Feb 2015

ID: 45085631