1.
Clin Case Rep
; 6(12): 2399-2402, 2018 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30564336
RESUMO
Mucopolysaccharidoses are group of inherited lysosomal storage disorder. Two siblings of a family manifested behavioral abnormalities; hepatosplenomegaly and hypotonia of infantile onset were found to have a novel homozygous frameshift variation, p.Leu280TrpfsTer19 in NAGLU. This variant was predicted to cause the loss of TIM-barrel and alpha-helical region of NAGLU protein.