High clinical burden of classical homocystinuria in the United States: a retrospective analysis

Abstract Background Classical homocystinuria (HCU) is a rare genetic metabolic disorder resulting in elevated homocysteine and methionine levels. The clinical characteristics and associated complications of HCU are well documented. However, there is limited published research on the clinical burden...

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Hlavní autoři:	Mahim Jain, Mehul Shah, Kamlesh M. Thakker, Andrew Rava, Agnes Pelts Block, Colette Ndiba-Markey, Lionel Pinto
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	BMC 2025-01-01
Edice:	Orphanet Journal of Rare Diseases
Témata:	Classical homocystinuria Total homocysteine Clinical burden
On-line přístup:	https://doi.org/10.1186/s13023-025-03530-9
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