Výsledky vyhledávání - "Umamaheshwari Balakrishnan"

Akademický článek

A case of carbonic anhydrase type VA deficiency presenting as West syndrome in an infant with a novel mutation in the CA-VA gene

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

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Infant Presenting With Developmental Regression and Infantile Spasms Diagnosed as Zellweger Spectrum Disorder

Autor: Kusumita Chhabra, Umamaheshwari Balakrishnan, Prakash Amboiram, Anil Jalan

Publikováno v: Journal of Neonatology. 36:153-156

Among the Zellweger spectrum disorders of peroxisomal biogenesis, Zellweger syndrome (ZS) is the most severe of identified disorders in this spectrum. Clinical features include facial dysmorphism, neuronal migration defects, failure to thrive, and he

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::960293d673402f8c2bd666eebb4e7e51
https://doi.org/10.1177/09732179221100435

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