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Diagnostik og behandling af fenylketonuri

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  1. The effect of antidepressants on brain volume

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  2. Nyt studie viser, at motion beskytter mod depression

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  3. Forebyggelse og behandling af cytomegalovirusinfektion hos gravide og nyfødte

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  4. Groin hernia in children

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  5. Boganmeldelse: Min mor var besat

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  1. Age-related renal function decline in Fabry disease patients on enzyme replacement therapy: a longitudinal cohort study

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  2. Impaired Fat Oxidation During Exercise in Long-Chain Acyl-CoA Dehydrogenase Deficiency Patients and Effect of IV-Glucose

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  3. Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

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  4. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

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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