A culture model for the assessment of phenylalanine neurotoxicity in phenylketonuria
A culture model for the assessment of phenylalanine neurotoxicity in phenylketonuria
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Publisher
Cham: Springer International Publishing
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Language
English
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Publisher
Cham: Springer International Publishing
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Scope and Contents
Contents
Objective
Phenylketonuria (PKU) is caused by a specific mutation of the phenylalanine hydroxylase (PAH) gene. The deficiency of PAH results in high phenylalanine levels (Phe), low tyrosine levels (Tyr), and reduced catecholamine neurotransmitters. The majority of PKU patients, if untreated, develop severe mental retardation. The specific contrib...
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Full title
A culture model for the assessment of phenylalanine neurotoxicity in phenylketonuria
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Author / Creator
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11756468
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11756468
Other Identifiers
ISSN
2731-3441,2731-3433
E-ISSN
2731-3441
DOI
10.1007/s44164-021-00007-4
