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, Heptanoic acid, 6-hydroxy-4-oxo-
National Institutes of Health
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A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report
Orphanet journal of rare diseases
Corpus ID: 2131174
A male patient, born to unrelated Belgian parents, presented at 4 months with epistaxis, haematemesis and haematochezia. On…
Identification of 4,6-dioxoheptanoic acid (succinylacetone), 3,5-dioxooctanedioic acid (succinylacetoacetate) and 4-Oxo-6-hydroxyheptanoic acid in the urine from patients with hereditary tyrosinemia.
Biomedical mass spectrometry
Corpus ID: 27615432
In the urine from patients with hereditary tyrosinemia, three characteristic compounds have been found. They have been identified…
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