Fucosidosis with Pathogenic Variant in FUCA1 Gene
Indian J Pediatr
.
2020 Oct;87(10):867-868.
doi: 10.1007/s12098-020-03246-7.
Epub 2020 Mar 3.
Authors
Vykuntaraju K Gowda
1
,
Varunvenkat M Srinivasan
2
,
Hemadri Vegda
2
,
Maya Bhat
3
Affiliations
1
Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India. drknvraju@hotmail.com.
2
Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.
3
Department of Neuroradiology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.
PMID:
32125660
DOI:
10.1007/s12098-020-03246-7
No abstract available
Publication types
Letter
MeSH terms
Child, Preschool
Consanguinity
Female
Fucosidosis* / diagnosis
Fucosidosis* / genetics
Humans
Male
Mutation
alpha-L-Fucosidase / genetics*
Substances
FUCA1 protein, human
alpha-L-Fucosidase