Charlotte M. A. Lubout

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

Charlotte M. A. Lubout, Francisco Arrieta, Katarzyna Bartosiewicz et al. · Journal of Inherited Metabolic Disease · 2019 · 36 citations · Full text

Medicine, Radiology, Bone Metabolism +14

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

Alessandro Rossi, Irene J. Hoogeveen, Charlotte M. A. Lubout et al. · Journal of Inherited Metabolic Disease · 2021 · 25 citations · Full text

Medicine, Emergency Medicine, Internal Medicine +14

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

Patrick A. Brouwer, Charlotte M. A. Lubout, J. Marc C. van Dijk et al. · European Radiology · 2012 · 24 citations · Full text

Medicine, Anatomy, Neurosurgery +17

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

Roeland A. F. Evers, Annemiek M. J. van Wegberg, Karen Anjema et al. · Journal of Inherited Metabolic Disease · 2019 · 23 citations · Full text

Medicine, Pharmacology, Physical Examination +2

Hereditary folate malabsorption due to a mutation in the external gate of the proton-coupled folate transporter SLC46A1

Srinivas Aluri, Rongbao Zhao, Charlotte M. A. Lubout et al. · Blood Advances · 2018 · 22 citations · Full text

Life Sciences, Genetics, Molecular Biology +17