Diagnosis of Classic Homocystinuria in Two Boys Presenting with Acute Cerebral Venous Thrombosis and Neurologic Dysfunction after Normal Newborn Screening

Homocystinuria, caused by cystathionine β-synthase deficiency, is a rare inherited disorder involving metabolism of methionine. Impaired synthesis of cystathionine leads to accumulation of homocysteine that affects several organ systems leading to abnormalities in the skeletal, cardiovascular, ophth...

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Detalles Bibliográficos
Autores principales: Asamoah, Alexander, Wei, Sainan, Jackson, Kelly E., Hersh, Joseph H., Levy, Harvey
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8395908/
https://www.ncbi.nlm.nih.gov/pubmed/34449521
http://dx.doi.org/10.3390/ijns7030048

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8395908/
https://www.ncbi.nlm.nih.gov/pubmed/34449521
http://dx.doi.org/10.3390/ijns7030048

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