Molecular Basis of Phenotypic Heterogeneity in Phenylketonuria
Molecular Basis of Phenotypic Heterogeneity in Phenylketonuria
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Boston, MA: Massachusetts Medical Society
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Language
English
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Publisher
Boston, MA: Massachusetts Medical Society
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Contents
Phenylketonuria is an autosomal recessive genetic disease caused by a deficiency of hepatic phenylalanine hydroxylase activity. The various degrees of mental impairment that occur in patients with phenylketonuria can be reduced through the rigorous implementation of a diet low in phenylalanine. With the introduction of neonatal screening, a spectru...
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Full title
Molecular Basis of Phenotypic Heterogeneity in Phenylketonuria
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TN_cdi_proquest_miscellaneous_80504644
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_80504644
Other Identifiers
ISSN
0028-4793
E-ISSN
1533-4406
DOI
10.1056/NEJM199105023241802
