Atypical cases of phenylketonuria View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1987-01

AUTHORS

J. -L. Dhondt, J. -P. Farriaux

ABSTRACT

Neonatal HPA can be caused by deficiency of PAH or of its cofactor. At present, conventional methods are not able to delineate the molecular basis of the mutations in PKU patients. DNA analysis might in future visualize the different genotypes, but might not solve the problem of therapeutic decision. All infants with HPA should be screened for THB deficiency. Diagnostic tools are now available for the recognition of these variants among hyperphenylalaninemic infants. The most important question-which infants can achieve normal development if treated early-remains tobe answered. Efforts have to be directed toward better characterization of individual residual capacity to synthesize THB and toward and definition of protocols for the follow-up of neurotransmitter replacement therapy. More... »

PAGES

a38-a43

References to SciGraph publications

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/bf00442055

    DOI

    http://dx.doi.org/10.1007/bf00442055

    DIMENSIONS

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    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/3319636


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    Download the RDF metadata as:  json-ld nt turtle xml License info

    HOW TO GET THIS DATA PROGRAMMATICALLY:

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    curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1007/bf00442055'

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    Turtle is a human-readable linked data format.

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    RDF/XML is a standard XML format for linked data.

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/bf00442055'


     

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