Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Dhanalakshmi Kumble"'
Autor:
Archana Vaddinahalli Kariyappa, Shilpa Krishnapura Lakshminarayana, Dhanalakshmi Kumble, Kavitha Siddappa, Kalpana Ramesh Yelsangikar, Mallesh Kariyappa, Thotakura Pranga Lakshmi, Ashwin Dalal
Publikováno v:
Journal of Pediatric Research, Vol 11, Iss 4, Pp 250-253 (2024)
Glu178 is the active site residue essential for substrate affinity and catalytic activity of the aspartoacylase enzyme. Sanger sequencing in an infant with Canavan disease revealed a homozygous ASPA: c.532G>A: p. (Glu178Lys) variant. Glu178Lys is the
Externí odkaz:
https://doaj.org/article/c12e573786e44486b5ffb1e04e736932
Autor:
Ashray Sudarshan Patel, M Lakshmi, Nivya Shree, Ravichandra Kothur Rangegowda, Sushma Veeranna Sajjan, Anitha Kommalur, Dhanalakshmi Kumble, Sahana Devadas, Mallesh Kariyappa
Publikováno v:
Journal of Pediatric Neurology. 20:341-345
The coronavirus disease 2019 (COVID-19) in children has been shown to have lower morbidity and mortality in children as compared with adults. The neurological complications related to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) are i
Publikováno v:
International Journal of Contemporary Pediatrics. 4:780
Background: Thalassemia is the commonest haemoglobinopathies worldwide. Repeated blood transfusions lead to hemosiderosis which affects all the organs in the body including eyes. This study aims to study Ocular manifestations in these children and it