Article
The spectrum of neurological manifestations and genotype-phenotype correlation in Indian children with Gaucher disease.
American journal of medical genetics. Part A - 1 Apr 2023
Venkatachari Mahesh, Chakraborty Soumalya, Correa Alec Reginald Errol, Mishra Puneeta, Kocchar Kanwal Preet, Kabra Madhulika, Chakrabarty Biswaroop, Kalaivani Mani, Sapra Savita, Mishra Pallavi, Gulati Sheffali, Gupta Neerja
Abstract excerpt
Gaucher disease (GD), one of the most frequent autosomal recessive lysosomal storage disorders, occurs due to bi-allelic pathogenic variants in the GBA1. Worldwide, the c.1448T>C (L483P) homozygous pathogenic variant is reported to be associated with neurological GD phenotype. Clinical distinction between GD1 and GD3 may be challenging due to subtle neurological features. Objective methods to evaluate...
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