Charlotte M. A. Lubout

Cervical high-intensity intramedullary lesions in achondroplasia: Aetiology, prevalence and clinical relevance

P. Brouwer, J. V. van Dijk, C. Lubout, 2012, European Radiology.

Biomarkers of Micronutrients in Regular Follow-Up for Tyrosinemia Type 1 and Phenylketonuria Patients

B. Wolffenbuttel, M. M. van der Klauw, M. Heiner-Fokkema, 2019, Nutrients.

A retrospective study of eating and psychosocial problems in patients with hepatic glycogen storage diseases and idiopathic ketotic hypoglycemia: Towards a standard set of patient‐reported outcome measures

F. de Boer, T. Derks, B. Huskens, 2021, JIMD reports.

A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single‐center study and the generation of www.emergencyprotocol.net

S. Grünert, Irene J. Hoogeveen, F. de Boer, 2021, Journal of inherited metabolic disease.

Disorders of Carbohydrate Absorption, Transmembrane Transport and Metabolism

T. Derks, M. Woidy, C. Lubout, 2022, Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases.

The first European guidelines on phenylketonuria: Usefulness and implications for BH4 responsiveness testing

N. Blau, E. Dam, K. Anjema, 2020, Journal of inherited metabolic disease.

A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening

M. Heiner-Fokkema, F. Wijburg, F. V. van Spronsen, 2023, International journal of neonatal screening.

A False-Negative Newborn Screen for Tyrosinemia Type 1—Need for Re-Evaluation of Newborn Screening with Succinylacetone

M. Heiner-Fokkema, J. Zsiros, F. V. van Spronsen, 2023, International Journal of Neonatal Screening.

Bone mineral density is within normal range in most adult phenylketonuria patients

J. H. van der Lee, C. Hollak, M. Wagenmakers, 2020, Journal of inherited metabolic disease.

Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels

N. Stence, R. Saneto, J. V. Van Hove, 2022, Orphanet Journal of Rare Diseases.

A preliminary study of telemedicine for patients with hepatic glycogen storage disease and their healthcare providers: from bedside to home site monitoring

Irene J. Hoogeveen, F. de Boer, T. Derks, 2018, Journal of Inherited Metabolic Disease.

Molybdenum cofactor deficiency type A: Prenatal monitoring using MRI.

L. Meiners, G. Schwarz, T. Derks, 2017, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.