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pro vyhledávání: '"Niranjani Mani Urmila"'
Autor:
Niranjani Mani Urmila, Deepti Kewalramani, Umamaheshwari Balakrishnan, Ranjith Kumar Manokaran
Publikováno v:
Epilepsy & Behavior Reports, Vol 20, Iss , Pp 100573- (2022)
Carbonic anhydrase VA (CA-VA) deficiency is a rare autosomal-recessive inborn error of metabolism. It is imperative to consider CA-VA deficiency as a differential diagnosis in neonates with hyperammonemia not attributed to defects in urea cycle enzym
Externí odkaz:
https://doaj.org/article/570d126b081f4463bbded6584f1e4cda
