TY  - JOUR 
T1  - Phenotypic and Genotypic Variability in Niemann-Pick Type C: A Brazilian Case Series
JO  - Journal of Inborn Errors of Metabolism and Screening
A1  - Almeida, Marcela L.
A1  - Funayama, Carolina A. R.
A1  - Marques, Wilson
A1  - Caldas, Carla A. C. T.
A1  - Lourenço, Charles M.
A1  - Hamad, Ana P. A.
A1  - Traslaviña, Guillermo A. A.
SN  - 2326-4594
UL  - 10.1590/2326-4594-JIEMS-2024-0005
VL  - 13 
Y1  - 2025
PB  - Brazil 
ER  -