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159 results

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Osteoporosis and Fragility Fractures in Patients With Cirrhosis Evaluated for Liver Transplantation: Identification of High-Risk Patients Based on Computed Tomography at Evaluation.
Nachef C, Bousson V, Belmatoug N, Cohen-Solal M, Vilgrain V, Roux O, Francoz C, Durand F, Funck-Brentano T. Nachef C, et al. Among authors: belmatoug n. Am J Gastroenterol. 2024 Feb 1;119(2):367-370. doi: 10.14309/ajg.0000000000002507. Epub 2023 Nov 10. Am J Gastroenterol. 2024. PMID: 37734343
Deciphering metabolic shifts in Gaucher disease type 1: a multi-omics study.
Ducatez F, Berger MG, Pilon C, Plichet T, Lesueur C, Berger J, Belmatoug N, Marret S, Bekri S, Tebani A. Ducatez F, et al. Among authors: belmatoug n. J Mol Med (Berl). 2024 Dec 30. doi: 10.1007/s00109-024-02512-x. Online ahead of print. J Mol Med (Berl). 2024. PMID: 39738845
Lysosphingolipid Quantitation in Plasma and Dried-Blood Spots Using Targeted High-Resolution Mass Spectrometry.
Ducatez F, Mauhin W, Ottaviani J, Plichet T, Pilon C, Lidove O, Barbey F, Perrichot R, Vergnaud S, Berger MG, Berger J, Belmatoug N, Nadjar Y, Lamari F, Noel E, Marret S, Bekri S, Tebani A. Ducatez F, et al. Among authors: belmatoug n. J Clin Lab Anal. 2025 Jan;39(1):e25131. doi: 10.1002/jcla.25131. Epub 2024 Dec 27. J Clin Lab Anal. 2025. PMID: 39727194 Free PMC article.
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).
Parenti G, Fecarotta S, Alagia M, Attaianese F, Verde A, Tarallo A, Gragnaniello V, Ziagaki A, Guimaraes MJ, Aguiar P, Hahn A, Azevedo O, Donati MA, Kiec-Wilk B, Scarpa M, van der Beek NAME, Del Toro Riera M, Germain DP, Huidekoper H, van den Hout JMP, van der Ploeg AT; and the MetabERN Subnetwork for Lysosomal Disorders. Parenti G, et al. Orphanet J Rare Dis. 2024 Nov 1;19(1):408. doi: 10.1186/s13023-024-03373-w. Orphanet J Rare Dis. 2024. PMID: 39482698 Free PMC article. Review.
Acid sphingomyelinase deficiency in France: a retrospective survival study.
Mauhin W, Guffon N, Vanier MT, Froissart R, Cano A, Douillard C, Lavigne C, Héron B, Belmatoug N, Uzunhan Y, Lacombe D, Levade T, Duvivier A, Pulikottil-Jacob R, Laredo F, Pichard S, Lidove O; ASSUR Study Group. Mauhin W, et al. Among authors: belmatoug n. Orphanet J Rare Dis. 2024 Aug 5;19(1):289. doi: 10.1186/s13023-024-03234-6. Orphanet J Rare Dis. 2024. PMID: 39103853 Free PMC article.
Twelve Years of the Gaucher Outcomes Survey (GOS): Insights, Achievements, and Lessons Learned from a Global Patient Registry.
Elstein D, Belmatoug N, Bembi B, Deegan P, Fernandez-Sasso D, Giraldo P, Göker-Alpan Ö, Hughes D, Lau H, Lukina E, Revel-Vilk S, Schwartz IVD, Istaiti M, Botha J, Gadir N, Schenk J, Zimran A; GOS Study Group. Elstein D, et al. Among authors: belmatoug n. J Clin Med. 2024 Jun 19;13(12):3588. doi: 10.3390/jcm13123588. J Clin Med. 2024. PMID: 38930117 Free PMC article.
159 results