Ge-ann Kuiper
Amsterdam, NH, Netherlands
Last Updated: 09/26/2026
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Found 8 publications
Limited data to evaluate real-world effectiveness of enzyme replacement therapy for mucopolysaccharidosis type I.
Journal: Journal of inherited metabolic disease
Published: February 13, 2019
"Missing mutations" in MPS I: Identification of two novel copy number variations by an IDUA-specific in house MLPA assay.
Journal: Molecular genetics & genomic medicine
Published: December 14, 2018
Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure.
Journal: Orphanet journal of rare diseases
Published: November 20, 2018
Salivary α-Iduronidase Activity as a Potential New Biomarker for the Diagnosis and Monitoring the Effect of Therapy in Mucopolysaccharidosis Type I.
Journal: Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation
Published: April 04, 2018
Failure to shorten the diagnostic delay in two ultra-orphan diseases (mucopolysaccharidosis types I and III): potential causes and implications.
Journal: Orphanet journal of rare diseases
Published: September 29, 2017
Clostridium difficile infections in young infants: Case presentations and literature review.
Journal: IDCases
Published: June 21, 2017
Incomplete biomarker response in mucopolysaccharidosis type I after successful hematopoietic cell transplantation.
Journal: Molecular genetics and metabolism
Published: March 06, 2017
Infant's Age Influences the Accuracy of Rectal Suction Biopsies for Diagnosing of Hirschsprung's Disease.
Journal: Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association
Published: April 03, 2015
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Last Updated: 09/26/2026