Publications

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Estimated prevalence of moderate to severely elevated total homocysteine levels in the United States: A missed opportunity for diagnosis of homocystinuria?
Demonstrates the large number of tHCY tests conducted in the US where the result is greater than 30. In fact, in all age deciles the percentage of the results greater than 30, which is in the 98% of the frequency distribution, is consistent. Very few of these patients have a diagnosis of HCU. We believe that many of these patients should be further evaluated for HCU. » Read More
Prevalence, characteristics, and costs of diagnosed homocystinuria, elevated homocysteine, and phenylketonuria in the United States: a retrospective claims-based comparison.
The implications of this data are that a large number of patients with an ICD-10 code specific to HCU are not being referred to metabolic geneticists. These patients healthcare costs are similar to a PKU patients and greater than patients with an tHCY>20 and no ICD-10 code. » Read More