George G. Ruijter
Rotterdam, ZH, Netherlands
Last Updated: 09/26/2026
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Found 51 publications
Improving the performance of biochemical genetic testing through external quality assessment.
Journal: Clinical chemistry and laboratory medicine
Published: May 22, 2026
The urine metabolomic signature of distal diuretics and diuretic-induced hyponatremia in patients with chronic kidney disease.
Journal: American journal of physiology. Renal physiology
Published: April 10, 2026
Disease characteristics of SEPSECS deficiency: an international, retrospective, multicenter cohort study.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 02, 2025
Domain-substituted IGF2 tag modulates targeting of lentiviral gene therapy for Hunter syndrome.
Journal: EMBO molecular medicine
Published: January 10, 2025
Acanthamoeba castellanii trophozoites need oxygen for normal functioning and lipids are their preferred substrate, offering new possibilities for treatment.
Journal: International journal for parasitology
Published: June 05, 2024
Targeted ultra performance liquid chromatography tandem mass spectrometry procedures for the diagnosis of inborn errors of metabolism: validation through ERNDIM external quality assessment schemes.
Journal: Clinical chemistry and laboratory medicine
Published: November 14, 2023
Bi-allelic NIT1 variants cause a brain small vessel disease characterized by movement disorders, massively dilated perivascular spaces, and intracerebral hemorrhage.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 18, 2023
Gastrointestinal Biomarkers and Their Association with Feeding in the First Five Days of Pediatric Critical Illness.
Journal: Journal of pediatric gastroenterology and nutrition
Published: September 20, 2023
Tagged IDS causes efficient and engraftment-independent prevention of brain pathology during lentiviral gene therapy for Mucopolysaccharidosis type II.
Journal: Molecular therapy. Methods & clinical development
Published: June 28, 2023
GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing.
Journal: Molecular genetics and metabolism reports
Published: June 07, 2023
Last Updated: 09/26/2026