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Phenotypic Pleiotropy in Arginase Deficiency: A Single Center Cohort
BACKGROUND: Arginase deficiency is considered a masquerader of diplegic cerebral palsy. The rarity of hyperammonemic crisis and the slowly progressive course has made it a unique entity among the urea cycle defects. OBJECTIVES: The aim of our study is to describe the varied phenotypic spectrum of ch...
Autores principales: | Bharathi, Narmadham K., Thomas, Maya Mary, Yoganathan, Sangeetha, Chandran, Mahalakshmi, Aaron, Rekha, Danda, Sumita |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer - Medknow
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9996474/ https://www.ncbi.nlm.nih.gov/pubmed/36911443 http://dx.doi.org/10.4103/aian.aian_612_22 |
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