Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Hiren Panwala"'
Publikováno v:
Indian Pediatrics Case Reports, Vol 2, Iss 3, Pp 162-166 (2022)
Background: Krabbe's disease is a neurodegenerative condition caused by a deficiency of a lysosomal enzyme, galactocerebrosidase (GALC), found mainly in the brain. There are four variants based on the age of onset: Infantile, late infantile, juvenile
Externí odkaz:
https://doaj.org/article/e81a781ea00c41a88c3ca2041bfa9de5
Autor:
Archana Khan, Hiren Panwala, Aditya Daftary, Raju Khubchandani, Chetna Khemani, Pallavi Pimpale Chavan, Ivona Aksentijevich
Publikováno v:
The Journal of Rheumatology. 48:1850-1855
ObjectiveMajeed syndrome (MJS) is an autosomal recessive, systemic autoinflammatory disease (SAID) caused by biallelic loss-of-function variants in theLPIN2gene. It is characterized by early-onset chronic recurrent multifocal osteomyelitis (CRMO), dy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10e4bd1fb539c780bc11dabab19db9dd
https://doi.org/10.3899/jrheum.201663
https://doi.org/10.3899/jrheum.201663