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Page 1
Corrigendum to Multiomic analysis in fibroblasts of patients with inborn errors of cobalamin metabolism reveals concordance with clinical and metabolic variability [eBioMedicine 99 (2024), 104911].
Wiedemann A, Oussalah A, Guéant Rodriguez RM, Jeannesson E, Merten M, Rotaru I, Alberto JM, Baspinar O, Rashka C, Hassan Z, Siblini Y, Matmat K, Jeandel M, Chery C, Robert A, Chevreux G, Lignières L, Camadro JM, Feillet F, Coelho D, Guéant JL. Wiedemann A, et al. Among authors: feillet f. EBioMedicine. 2024 Dec 27;112:105540. doi: 10.1016/j.ebiom.2024.105540. Online ahead of print. EBioMedicine. 2024. PMID: 39731970 Free article. No abstract available.
Mapping challenges in the accessibility of treatment products for urea cycle disorders: A survey of European healthcare professionals.
Stolwijk NN, Häberle J, Huidekoper HH, Wagenmakers MAEM, Hollak CEM, Bosch AM; E‐IMD and MetabERN Working Group on the Real‐World Use of products for UCD Management. Stolwijk NN, et al. J Inherit Metab Dis. 2025 Jan;48(1):e12815. doi: 10.1002/jimd.12815. Epub 2024 Dec 3. J Inherit Metab Dis. 2025. PMID: 39625308 Free PMC article.
Effects of oral sepiapterin on blood Phe concentration in a broad range of patients with phenylketonuria (APHENITY): results of an international, phase 3, randomised, double-blind, placebo-controlled trial.
Muntau AC, Longo N, Ezgu F, Schwartz IVD, Lah M, Bratkovic D, Margvelashvili L, Kiykim E, Zori R, Campistol Plana J, Bélanger-Quintana A, Lund A, Guilder L, Chakrapani A, Mungan HN, Guimas A, Cabrales Guerra IDC, MacDonald A, Ingalls K, Smith N; APHENITY study group. Muntau AC, et al. Lancet. 2024 Oct 5;404(10460):1333-1345. doi: 10.1016/S0140-6736(24)01556-3. Lancet. 2024. PMID: 39368841 Clinical Trial.
Longitudinal Dietary Intake Data in Patients with Phenylketonuria from Europe: The Impact of Age and Phenylketonuria Severity.
Pinto A, Ahring K, Almeida MF, Ashmore C, Bélanger-Quintana A, Burlina A, Coşkun T, Daly A, van Dam E, Dursun A, Evans S, Feillet F, Giżewska M, Gökmen-Özel H, Hickson M, Hoekstra Y, Ilgaz F, Jackson R, Leśniak A, Loro C, Malicka K, Patalan M, Rocha JC, Sivri S, Rodenburg I, van Spronsen F, Strączek K, Tokatli A, MacDonald A. Pinto A, et al. Among authors: feillet f. Nutrients. 2024 Aug 31;16(17):2909. doi: 10.3390/nu16172909. Nutrients. 2024. PMID: 39275225 Free PMC article.
Long-term safety of sapropterin in paediatric and adult individuals with phenylalanine hydroxylase deficiency: Final results of the Kuvan® Adult Maternal Paediatric European Registry multinational observational study.
Feillet F, Arnoux JB, Delgado MB, Burlina A, Chabrol B, Kucuksayrac E, Lagler FB, Muntau AC, Olsson D, Paci S, Rutsch F, van Spronsen FJ; KAMPER investigators. Feillet F, et al. J Inherit Metab Dis. 2025 Jan;48(1):e12796. doi: 10.1002/jimd.12796. Epub 2024 Sep 5. J Inherit Metab Dis. 2025. PMID: 39237321 Free PMC article.
Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018: Is It a Changing Landscape?
Pinto A, Ahring K, Almeida MF, Ashmore C, Bélanger-Quintana A, Burlina A, Coşkun T, Daly A, van Dam E, Dursun A, Evans S, Feillet F, Giżewska M, Gökmen-Özel H, Hickson M, Hoekstra Y, Ilgaz F, Jackson R, Leśniak A, Loro C, Malicka K, Patalan M, Rocha JC, Sivri S, Rodenburg I, van Spronsen F, Strączek K, Tokatli A, MacDonald A. Pinto A, et al. Among authors: feillet f. Nutrients. 2024 Jun 28;16(13):2064. doi: 10.3390/nu16132064. Nutrients. 2024. PMID: 38999811 Free PMC article.
Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur-Chung neurodevelopmental syndrome.
Blanc A, Bonnet C, Wandzel M, Roth V, Duffourd Y, Safraou H, Leheup B, Muller F, D Colne J, Feillet F, Schmitt E, Castro M, Savatt J, Burcheri A, Nemos C, Philippe C, Lambert L. Blanc A, et al. Among authors: feillet f. Am J Med Genet A. 2024 Sep;194(9):e63642. doi: 10.1002/ajmg.a.63642. Epub 2024 May 6. Am J Med Genet A. 2024. PMID: 38711237
Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU-MOMs sub-registries.
Feillet F, Ficicioglu C, Lagler FB, Longo N, Muntau AC, Burlina A, Trefz FK, van Spronsen FJ, Arnoux JB, Lindstrom K, Lilienstein J, Clague GE, Rowell R, Burton BK; KAMPER and PKUDOS investigators. Feillet F, et al. J Inherit Metab Dis. 2024 Jul;47(4):636-650. doi: 10.1002/jimd.12724. Epub 2024 Mar 3. J Inherit Metab Dis. 2024. PMID: 38433424
230 results