Detalhe da pesquisa
1.
Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency.
Hum Mutat
; 42(10): 1336-1350, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34273913
2.
Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III.
J Hum Genet
; 65(11): 971-984, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32651481
3.
Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI.
Indian J Med Res
; 142(4): 414-25, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26609033
4.
GALNS mutations in Indian patients with mucopolysaccharidosis IVA.
Am J Med Genet A
; 164A(11): 2793-801, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25252036
5.
Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI.
Artigo
em Inglês
| IMSEAR | ID: sea-170335