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Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.
Almes M, Spraul A, Ruiz M, Girard M, Roquelaure B, Laborde N, Gottrand F, Turquet A, Lamireau T, Dabadie A, Bonneton M, Thebaut A, Rohmer B, Lacaille F, Broué P, Fabre A, Mention-Mulliez K, Bouligand J, Jacquemin E, Gonzales E. Almes M, et al. Diagnostics (Basel). 2022 May 7;12(5):1169. doi: 10.3390/diagnostics12051169. Diagnostics (Basel). 2022. PMID: 35626323 Free PMC article.
Classical osseous lesions leading to an unsuspected diagnosis.
Almes M, Fayard C, Gonzales E, Hermeziu B, Bellesme C, Jacquemin E, Koné-Paut I, Adamsbaum C, Dusser P. Almes M, et al. Arch Pediatr. 2017 Dec;24(12):1278-1280. doi: 10.1016/j.arcped.2017.09.004. Epub 2017 Nov 16. Arch Pediatr. 2017. PMID: 29153906 No abstract available.
Unusual osseous presentation of Wilson disease in a child.
Almes M, Fayard C, Gonzales E, Hermeziu B, Bellesme C, Jacquemin E, Koné-Paut I, Adamsbaum C, Dusser P. Almes M, et al. Arch Pediatr. 2017 Dec;24(12):1324-1327. doi: 10.1016/j.arcped.2017.09.005. Epub 2017 Nov 16. Arch Pediatr. 2017. PMID: 29153911 No abstract available.
Outcomes of 38 patients with PFIC3: Impact of genotype and of response to ursodeoxycholic acid therapy.
Gonzales E, Gardin A, Almes M, Darmellah-Remil A, Seguin H, Mussini C, Franchi-Abella S, Duché M, Ackermann O, Thébaut A, Habes D, Hermeziu B, Lapalus M, Falguières T, Combal JP, Benichou B, Valero S, Davit-Spraul A, Jacquemin E. Gonzales E, et al. Among authors: almes m. JHEP Rep. 2023 Jul 13;5(10):100844. doi: 10.1016/j.jhepr.2023.100844. eCollection 2023 Oct. JHEP Rep. 2023. PMID: 37701337 Free PMC article.
∆4-3-oxo-5β-reductase deficiency: favorable outcome in 16 patients treated with cholic acid.
Gardin A, Ruiz M, Beime J, Cananzi M, Rathert M, Rohmer B, Grabhorn E, Almes M, Logarajah V, Peña-Quintana L, Casswall T, Darmellah-Remil A, Reyes-Domínguez A, Barkaoui E, Hierro L, Baquero-Montoya C, Baumann U, Fischler B, Gonzales E, Davit-Spraul A, Laplanche S, Jacquemin E. Gardin A, et al. Among authors: almes m. Orphanet J Rare Dis. 2023 Dec 7;18(1):383. doi: 10.1186/s13023-023-02984-z. Orphanet J Rare Dis. 2023. PMID: 38062451 Free PMC article.
22 results