Lindsey Welling
Purmerend, NH, Netherlands
Last Updated: 09/26/2026
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Found 8 publications
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.
Journal: American journal of human genetics
Published: April 01, 2024
The need for additional care in patients with classical galactosaemia.
Journal: Disability and rehabilitation
Published: June 02, 2018
Profiling of intracellular metabolites produced from galactose and its potential for galactosemia research.
Journal: Orphanet journal of rare diseases
Published: March 06, 2018
Nine years of newborn screening for classical galactosemia in the Netherlands: Effectiveness of screening methods, and identification of patients with previously unreported phenotypes.
Journal: Molecular genetics and metabolism
Published: November 14, 2016
Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis.
Journal: JIMD reports
Published: June 07, 2016
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.
Journal: Journal of inherited metabolic disease
Published: February 16, 2016
Early Umbilical Cord Blood-Derived Stem Cell Transplantation Does Not Prevent Neurological Deterioration in Mucopolysaccharidosis Type III.
Journal: JIMD reports
Published: June 26, 2014
Showing 1-8 of 8
Last Updated: 09/26/2026