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Journal of Inherited Metabolic Disease|November 25, 2017
Daily variation of NTBC and its relation to succinylacetone in tyrosinemia type 1 patients comparing a single dose to two doses a dayNienke S Kienstra, Hannah E van Reemst, Willem G van Ginkel, et al.
Nutrients|February 13, 2026
Global Use of Casein Glycomacropeptide Protein Substitutes for Phenylketonuria (PKU): Health Professional PerspectivesSharon Evans, Rani Singh, Kirsten Ahring, et al.
The Lancet. Oncology|November 7, 2022
Intra-individual comparison of 18F-sodium fluoride PET-CT and 99mTc bone scintigraphy with SPECT in patients with prostate cancer or breast cancer at high risk for skeletal metastases (MITNEC-A1): a multicentre, phase 3 trialFrançois Bénard, Sara Harsini, Don Wilson, et al.
Orphanet Journal of Rare Diseases|July 1, 2016
Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controlsWillem G van Ginkel, Rianne Jahja, Stephan C J Huijbregts, et al.
Nutrients|August 26, 2023
Evaluation of a New Glycomacropeptide-Based Protein Substitute in Powdered and Liquid Format in Patients with PKUMarta Delsoglio, Rebecca Capener, Anita MacDonald, et al.
Nutrients|August 26, 2023
Evaluation of a New 'Mix-In' Style Glycomacropeptide-Based Protein Substitute for Food and Drinks in Patients with Phenylketonuria and TyrosinemiaMarta Delsoglio, Rebecca Capener, Anita MacDonald, et al.
Nutrients|November 23, 2019
The Effect of Various Doses of Phenylalanine Supplementation on Blood Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 PatientsWillem G van Ginkel, Hannah E van Reemst, Nienke S Kienstra, et al.
Annals of Hematology|September 27, 2024
Rosai-Dorfman-Destombes disease in adults: a single center experienceEmily Leung, Collin Pryma, Stephen Murphy, et al.
European Journal of Neurology|April 9, 2026
The Role of Digital Tools and Their Implementation Within Patient Care Pathways for Rare Brain Disorders: The Case of PhenylketonuriaSara Cannizzo, Vinciane Quoidbach, Bernadette Sheehan-Gilroy, et al.
Nutrients|November 3, 2020
Dietary Management, Clinical Status and Outcome of Patients with Citrin Deficiency in the UKAlex Pinto, Catherine Ashmore, Spyros Batzios, et al.
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