Desiree Y. Visser-Van Haaften
Rotterdam, ZH, Netherlands
Last Updated: 09/26/2026
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Found 8 publications
Two new cases of KYNU deficiency: Further delineation of the phenotypic and biochemical spectrum and exploration of treatment options.
Journal: Molecular genetics and metabolism
Published: May 28, 2025
Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making.
Journal: European journal of human genetics : EJHG
Published: March 24, 2025
Imaging flow cytometry-based cellular screening elucidates pathophysiology in individuals with Variants of Uncertain Significance.
Journal: Genome medicine
Published: May 03, 2024
Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency.
Journal: Gastroenterology
Published: January 22, 2018
Ankyrin repeat and zinc-finger domain-containing 1 mutations are associated with infantile-onset inflammatory bowel disease.
Journal: The Journal of biological chemistry
Published: December 12, 2016
Loss of syntaxin 3 causes variant microvillus inclusion disease.
Journal: Gastroenterology
Published: October 29, 2013
Mutational analysis of ATP8B1 in patients with chronic pancreatitis.
Journal: PloS one
Published: September 10, 2013
Showing 1-8 of 8
Last Updated: 09/26/2026