Anil B. Jalan

Vashi, MH, India

Last Updated: 09/26/2026

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Found 19 publications

Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine.

Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine.

Journal: Orphanet journal of rare diseases

Published: October 31, 2025

Prenatal diagnosis of rare genetic disorders: fourteen years' experience of a tertiary genetic centre from India.

Prenatal diagnosis of rare genetic disorders: fourteen years' experience of a tertiary genetic centre from India.

Journal: Orphanet journal of rare diseases

Published: November 09, 2024

Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India.

Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India.

Journal: Human genomics

Published: March 05, 2024

Nuclear Mitochondrial Disorder Due to a Variant in NAXE in Two Unrelated Indian Children.

Nuclear Mitochondrial Disorder Due to a Variant in NAXE in Two Unrelated Indian Children.

Journal: Indian journal of pediatrics

Published: August 02, 2022

An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients.

An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients.

Journal: European journal of human genetics : EJHG

Published: February 16, 2022

Liver Transplantation: A Safe and Definitive Alternative to Lifelong Nitisinone for Tyrosinemia Type 1.

Liver Transplantation: A Safe and Definitive Alternative to Lifelong Nitisinone for Tyrosinemia Type 1.

Journal: Indian journal of pediatrics

Published: October 28, 2020

Wolman's Disease: A Rare Cause of Infantile Cholestasis and Cirrhosis.

Wolman's Disease: A Rare Cause of Infantile Cholestasis and Cirrhosis.

Journal: Journal of pediatric genetics

Published: May 25, 2020

Founder effects of the homogentisate 1,2-dioxygenase (HGD) gene in a gypsy population and mutation spectrum in the gene among alkaptonuria patients from India.

Founder effects of the homogentisate 1,2-dioxygenase (HGD) gene in a gypsy population and mutation spectrum in the gene among alkaptonuria patients from India.

Journal: Clinical rheumatology

Published: December 19, 2019

Auxiliary Partial Orthotopic Liver Transplantation for Monogenic Metabolic Liver Diseases: Single-Centre Experience.

Auxiliary Partial Orthotopic Liver Transplantation for Monogenic Metabolic Liver Diseases: Single-Centre Experience.

Journal: JIMD reports

Published: June 08, 2018

Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.

Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.

Journal: Orphanet journal of rare diseases

Published: February 21, 2018

Aicardi-Goutières Syndrome.

Aicardi-Goutières Syndrome.

Journal: Indian journal of pediatrics

Published: March 29, 2016

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

Journal: Journal of inherited metabolic disease

Published: June 17, 2015

Showing 1-12 of 19

Last Updated: 09/26/2026