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Molecular Genetics and Metabolism|May 10, 2011
Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiencyA Boutron, C Acquaviva, C Vianey-Saban, et al.Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|November 11, 2021
The role of nutrition in non-alcoholic fatty liver disease treatment in obese childrenD Guimber, D Debray, A Bocquet, et al.Journal of Inherited Metabolic Disease|March 13, 2026
Long-Term Follow-Up of Patients With Transaldolase DeficiencyM Scaglione, A Brassier, A Wiedemann, et al.Orphanet Journal of Rare Diseases|July 2, 2020
PKU dietary handbook to accompany PKU guidelinesA MacDonald, A M J van Wegberg, K Ahring, et al.Orphanet Journal of Rare Diseases|September 3, 2020
Correction to: PKU dietary handbook to accompany PKU guidelinesA MacDonald, A M J van Wegberg, K Ahring, et al.Orphanet Journal of Rare Diseases|October 14, 2017
The complete European guidelines on phenylketonuria: diagnosis and treatmentA M J van Wegberg, A MacDonald, K Ahring, et al.Molecular Genetics and Metabolism|May 16, 2025
European guidelines on diagnosis and treatment of phenylketonuria: First revisionA M J van Wegberg, A MacDonald, K Ahring, et al.Molecular Genetics and Metabolism|February 21, 2021
Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countriesR A F Evers, A M J van Wegberg, K Ahring, et al.Molecular Genetics and Metabolism|October 27, 2015
The challenges of managing coexistent disorders with phenylketonuria: 30 casesA MacDonald, K Ahring, M F Almeida, et al.Molecular Genetics and Metabolism Reports|March 10, 2017
Dietary practices in isovaleric acidemia: A European surveyA Pinto, A Daly, S Evans, et al.Pageof 7