Warsha A. Kanhai

Duivendrecht, NH, Netherlands

Last Updated: 09/26/2026

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Found 15 publications

Identification of three novel pathogenic mutations in cystathionine beta-synthase gene of Pakistani intellectually disabled patients.

Identification of three novel pathogenic mutations in cystathionine beta-synthase gene of Pakistani intellectually disabled patients.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: July 29, 2021

Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency.

Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency.

Journal: Molecular genetics and metabolism

Published: March 19, 2020

D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants.

D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants.

Journal: Human mutation

Published: September 24, 2018

An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants.

An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants.

Journal: Journal of inherited metabolic disease

Published: July 10, 2017

Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.

Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.

Journal: Human mutation

Published: November 22, 2016

A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene.

A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene.

Journal: Gene

Published: April 23, 2015

RNA sequencing of creatine transporter (SLC6A8) deficient fibroblasts reveals impairment of the extracellular matrix.

RNA sequencing of creatine transporter (SLC6A8) deficient fibroblasts reveals impairment of the extracellular matrix.

Journal: Human mutation

Published: March 01, 2014

Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene.

Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene.

Journal: Human mutation

Published: September 16, 2013

Post-transcriptional regulation of the creatine transporter gene: functional relevance of alternative splicing.

Post-transcriptional regulation of the creatine transporter gene: functional relevance of alternative splicing.

Journal: Biochimica et biophysica acta

Published: May 28, 2013

Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy.

Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy.

Journal: Brain : a journal of neurology

Published: March 14, 2013

Cloning and characterization of the promoter regions from the parent and paralogous creatine transporter genes.

Cloning and characterization of the promoter regions from the parent and paralogous creatine transporter genes.

Journal: Gene

Published: February 07, 2013

Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.

Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.

Journal: American journal of human genetics

Published: December 11, 2012

Showing 1-12 of 15

Last Updated: 09/26/2026