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pro vyhledávání: '"Soundaram Valliyappan"'
Autor:
Indira Jayakumar, Anupama Gude, Murarji Renangi, Soundaram Valliyappan, Venkateswaran Vellaichamy Swaminathan, Satishkumar Meena, Harika Varla, Rumesh Chandar, Ramya Uppuluri, Revathi Raj
Publikováno v:
Pediatric Hematology Oncology Journal, Vol 8, Iss 1, Pp 1-3 (2023)
Introduction: Wolman disease is a rare genetic disorder with an autosomal recessive inheritance. A mutation in the LIPA gene causes lysosomal acid lipase (LAL) deficiency results in lipid storage and adrenal insufficiency. Death in early infancy is d
Externí odkaz:
https://doaj.org/article/6624a6b295be452cb797988f6e6db6e1
Autor:
Dhanasekhar Kesavelu, Soundaram Valliyappan, Sarah Nalliannan, Priyadarshini Pande, Subathra Mahalingam
Publikováno v:
Journal of Pediatric Genetics.
A 7-year-old girl with recurrent episodes of pancreatitis with risk factor of poorly controlled hyperglyceridemia presented with an acute episode of pancreatitis. She was managed conservatively and underwent whole exome sequencing which showed a like