Plasma methionine concentrations and incidence of hypermethioninemic encephalopathy during infancy in a large cohort of 36 patients with classical homocystinuria in the Republic of Ireland

BACKGROUND: Classical homocystinuria is an autosomal recessive disorder caused by profound cystathionine β‐synthase deficiency. Its biochemical hallmarks are high concentrations of plasma homocyst(e)ine and methionine. Clinical manifestations include lens dislocation, developmental delay, skeletal a...

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Detalles Bibliográficos
Autores principales: Allen, John, Power, Bronwyn, Abedin, Aida, Purcell, Orla, Knerr, Ina, Monavari, Ahmad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2019
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6498867/
https://www.ncbi.nlm.nih.gov/pubmed/31240166
http://dx.doi.org/10.1002/jmd2.12029

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