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...

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Detalles Bibliográficos
Autores principales: Bharathi, Narmadham K., Thomas, Maya Mary, Yoganathan, Sangeetha, Chandran, Mahalakshmi, Aaron, Rekha, Danda, Sumita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2022
Materias:
Original Article
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

Internet

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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