Detalles de la búsqueda
1.
Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India.
Hum Genomics
; 18(1): 46, 2024 May 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-38730490
2.
Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency.
Hum Mutat
; 42(10): 1336-1350, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34273913
3.
Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature.
JIMD Rep
; 65(2): 85-101, 2024 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-38444573
4.
Late infantile and adult-onset metachromatic leukodystrophy due to novel missense variants in the PSAP gene: Case report from India.
JIMD Rep
; 64(4): 265-273, 2023 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-37404680
Resultados
1 -
4
de 4
1
Próxima >
>>