Charlotte A. Lubout
Groningen, GR, Netherlands
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 28 publications
Toward personalized treatment in phenylketonuria: Intra-individual variation of in vivo phenylalanine oxidation using the 13C-phenylalanine breath test.
Journal: Molecular genetics and metabolism
Published: March 25, 2026
Mapping the Severity of Phenylalanine Hydroxylase Deficiency.
Journal: Journal of inherited metabolic disease
Published: March 11, 2026
General movement assessment in infants with inherited metabolic disorders.
Journal: Early human development
Published: January 09, 2026
Living with phenylketonuria in adulthood.
Journal: Nutrition (Burbank, Los Angeles County, Calif.)
Published: December 19, 2025
Too Early to Tell? Balancing Diagnostic Accuracy of Newborn Screening for Propionic Acidemia Versus a Timely Referral.
Journal: International journal of neonatal screening
Published: November 24, 2025
Communication of an Abnormal Metabolic Newborn Screening Result in the Netherlands: A Qualitative Exploratory Study of the General Practitioner's Perspective.
Journal: International journal of neonatal screening
Published: June 03, 2025
Screening Tool Improves Recognition of Movement Disorders by Internists and Paediatricians in Patients With Inherited Metabolic Diseases.
Journal: Journal of inherited metabolic disease
Published: April 25, 2025
Reply to Bouva et al. Comment on "Dijkstra et al. A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with Succinylacetone. Int. J. Neonatal Screen. 2023, 9, 66".
Journal: International journal of neonatal screening
Published: July 22, 2024
Continuous glucose monitoring metrics in people with liver glycogen storage disease and idiopathic ketotic hypoglycemia: A single-center, retrospective, observational study.
Journal: Molecular genetics and metabolism
Published: June 28, 2024
High-Dose ERT, Rituximab, and Early HSCT in an Infant with Wolman's Disease.
Journal: The New England journal of medicine
Published: February 14, 2024
Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies.
Journal: Journal of inherited metabolic disease
Published: January 05, 2024
A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with Succinylacetone.
Journal: International journal of neonatal screening
Published: November 01, 2023
Last Updated: 09/26/2026