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Hawkinsinuria

Known as: 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency 
National Institutes of Health

Related topics

Related topics

4 relations
Autosomal dominant inheritanceFailure to Thrive

Broader (2)

Mixed Function OxygenasesTyrosinemias

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Variant analysis of HPD genes from two families showing elevated tyrosine upon newborn screening by tandem mass spectrometry (MS/MS)
Abstract Background Alterations in the structure and activity of 4-hydroxyphenylpyruvate dioxygenase (HPD) are causally related… 
2007
2007
Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III.
1999
1999
Long-term follow up of a new case of hawkinsinuria
Abstract Hawkinsinuria is a rarely diagnosed autosomal dominantly transmitted inborn error of tyrosine metabolism with impaired… 
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