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The role and control of arginine levels in arginase 1 deficiency
Arginase 1 Deficiency (ARG1‐D) is a rare urea cycle disorder that results in persistent hyperargininemia and a distinct, progressive neurologic phenotype involving developmental delay, intellectual disability, and spasticity, predominantly affecting the lower limbs and leading to mobility impairment...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10091968/ https://www.ncbi.nlm.nih.gov/pubmed/36175366 http://dx.doi.org/10.1002/jimd.12564 |