Arginase 1 Deficiency: using genetic databases as a tool to establish global prevalence

BACKGROUND/OBJECTIVE: Arginase 1 Deficiency (ARG1-D) is a rare inherited metabolic disease with progressive, devastating neurological manifestations with early mortality and high unmet need. Information on prevalence is scarce and highly variable due to limited newborn screening (NBS) availability,...

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Detalles Bibliográficos
Autores principales: Catsburg, C., Anderson, S., Upadhyaya, N., Bechter, M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8889696/
https://www.ncbi.nlm.nih.gov/pubmed/35236361
http://dx.doi.org/10.1186/s13023-022-02226-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8889696/
https://www.ncbi.nlm.nih.gov/pubmed/35236361
http://dx.doi.org/10.1186/s13023-022-02226-8

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