Chitra Ankleshwaria
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Cellular transport and secretion, Glycosylation and Glycoproteins Research, Trypanosoma species research and implications, Studies on Chitinases and Chitosanases
Most-Cited Works
- → Burden of Lysosomal Storage Disorders in India: Experience of 387 Affected Children from a Single Diagnostic Facility(2013)60 cited
- → Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease(2014)40 cited
- → Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India(2018)24 cited
- → Splenomegaly, Cardiomegaly, and Osteoporosis in a Child with Gaucher Disease(2011)7 cited
- → Erratum: Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease(2015)7 cited
- → Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family(2012)6 cited
- → Autosomal dominant mutation in COL7A1 gene causing epidermolysis bullosa dystrophica(2014)4 cited
- → Identification of novel mutations in glucocerebrosidase (GBA) gene in Indian patients with gaucher disease (GD)(2014)2 cited
- → Prenatal diagnosis of autosomal recessive osteopetrosis: a case report(2014)2 cited
- → Frequency analysis of Spinocerebellar ataxia types 1, 2, 3 & 6 in patients with ataxia from Gujarat(2014)1 cited