Srilatha Kadali

Banjara Hills
Hyderabad, TG, India

Last Updated: 09/26/2026

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Found 11 publications

High penetrance and phenotypic landscape of methylenetetrahydrofolate reductase c.665 C>T polymorphism in the absence of folate fortification.

High penetrance and phenotypic landscape of methylenetetrahydrofolate reductase c.665 C>T polymorphism in the absence of folate fortification.

Journal: Clinical nutrition ESPEN

Published: June 26, 2024

Phenotypic Evolution in Fabry Disease: Our Experience in Indian Cohort.

Phenotypic Evolution in Fabry Disease: Our Experience in Indian Cohort.

Journal: Indian journal of clinical biochemistry : IJCB

Published: November 24, 2023

Application of machine learning tools and integrated OMICS for screening and diagnosis of inborn errors of metabolism.

Application of machine learning tools and integrated OMICS for screening and diagnosis of inborn errors of metabolism.

Journal: Metabolomics : Official journal of the Metabolomic Society

Published: October 31, 2022

Biochemical, machine learning and molecular approaches for the differential diagnosis of Mucopolysaccharidoses.

Biochemical, machine learning and molecular approaches for the differential diagnosis of Mucopolysaccharidoses.

Journal: Molecular and cellular biochemistry

Published: January 03, 2019

Utility of amniotic fluid chitotriosidase in the prenatal diagnosis of lysosomal storage disorders.

Utility of amniotic fluid chitotriosidase in the prenatal diagnosis of lysosomal storage disorders.

Journal: Clinical biochemistry

Published: July 23, 2018

Acute Gaucher Disease-Like Condition in an Indian Infant with a Novel Biallelic Mutation in the Prosaposin Gene.

Acute Gaucher Disease-Like Condition in an Indian Infant with a Novel Biallelic Mutation in the Prosaposin Gene.

Journal: Journal of pediatric genetics

Published: July 21, 2018

Whole exome sequencing of breast cancer (TNBC) cases from India: association of MSH6 and BRIP1 variants with TNBC risk and oxidative DNA damage.

Whole exome sequencing of breast cancer (TNBC) cases from India: association of MSH6 and BRIP1 variants with TNBC risk and oxidative DNA damage.

Journal: Molecular biology reports

Published: July 02, 2018

Amniotic fluid glycosaminoglycans in the prenatal diagnosis of mucopolysaccharidoses - A useful biomarker.

Amniotic fluid glycosaminoglycans in the prenatal diagnosis of mucopolysaccharidoses - A useful biomarker.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: March 30, 2016

The utility of two dimensional electrophoresis in diagnosis of mucopolysaccharidosis disorders.

The utility of two dimensional electrophoresis in diagnosis of mucopolysaccharidosis disorders.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: June 23, 2015

Clinical evaluation of chitotriosidase enzyme activity in Gaucher and Niemann Pick A/B diseases: A retrospective study from India.

Clinical evaluation of chitotriosidase enzyme activity in Gaucher and Niemann Pick A/B diseases: A retrospective study from India.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: March 12, 2015

The relative frequency of lysosomal storage disorders: a medical genetics referral laboratory's experience from India.

The relative frequency of lysosomal storage disorders: a medical genetics referral laboratory's experience from India.

Journal: Journal of child neurology

Published: April 05, 2014

Showing 1-11 of 11

Last Updated: 09/26/2026