W. Kanhai

发表

Atypical pyridoxine-dependent epilepsy due to a pseudoexon in ALDH7A1.

M. Milh, N. Villeneuve, A. Pop, 2012, Molecular genetics and metabolism.

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

W. Kanhai, G. Salomons, Joseph D. T. Ndika, 2014, Biochimica et biophysica acta.

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

A. De Grassi, J. Abdenur, P. Lennertz, 2017, Journal of Inherited Metabolic Disease.

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

J. Loeber, A. Pop, W. Kanhai, 2016, Gene.

Guanidinoacetate methyltransferase deficiency: first steps to newborn screening for a treatable neurometabolic disease.

G. Sinclair, Silvy J. M. Dooren, C. Jakobs, 2012, Molecular genetics and metabolism.

RNA Sequencing of Creatine Transporter (SLC6A8) Deficient Fibroblasts Reveals Impairment of the Extracellular Matrix

G. Pals, Mark A. Wiel, Silvy J. M. Dooren, 2014, Human mutation.

Non‐invasive prenatal diagnosis of beta‐thalassemia and sickle‐cell disease using pyrophosphorolysis‐activated polymerization and melting curve analysis

E. Bakker, W. Kanhai, E. Boon, 2012, Prenatal diagnosis.

Beta-Globin Gene Cluster Haplotypes in Yemeni Children with Sickle Cell Disease

B. Brabin, W. Kanhai, C. Harteveld, 2010, Acta Haematologica.

Exome sequencing reveals mutated SLC19A3 in patients withan early-infantile, lethal, encephalopathy

Q. Waisfisz, P. Heutink, M. Knaap, 2013, Brain : a journal of neurology.

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

C. Karnebeek, W. Kanhai, G. Salomons, 2021, Journal of pediatric endocrinology & metabolism : JPEM.

IDH2 Mutations in Patients with d-2-Hydroxyglutaric Aciduria

E. Holme, E. Schaftingen, J. Smeitink, 2010, Science.

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

E. Sistermans, M. McDonald, T. Ben-Omran, 2013, American journal of human genetics.

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

W. Kanhai, G. Salomons, Joseph D. T. Ndika, 2014, Gene.

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

H. Waterham, S. Natesan, Silvy J. M. Dooren, 2020, Molecular genetics and metabolism.

Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the GAMT Gene

E. Christensen, N. Dorison, A. Lund, 2014, Human mutation.

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

Yair Anikster, H. Kayserili, Y. Anikster, 2017, Human mutation.

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

M. S. van der Knaap, E. Van Schaftingen, A. Pop, 2019, Human mutation.

Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the GAMT Gene

E. Christensen, N. Dorison, A. Lund, 2014, Human mutation.

Exome sequencing reveals mutated SLC19A3 in patients withan early-infantile, lethal, encephalopathy

Q. Waisfisz, P. Heutink, M. Knaap, 2013, Brain : a journal of neurology.

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

W. Kanhai, G. Salomons, Joseph D. T. Ndika, 2014, Biochimica et biophysica acta.